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PubMed2006

High performance liquid chromatography analysis of 2-mercaptoethylamine (cysteamine) in biological samples by derivatization with N-(1-pyrenyl) maleimide (NPM) using fluorescence detection.

2-Mercaptoethylamine (cysteamine) is an aminothiol compound used as a drug for the treatment of cystinosis, an autosomal recessive lysosomal storage disorder. Because of cysteamine's important role in clinical settings, its analysis by sensitive techniques has become pivotal. Unfortunately, the available methods are either complex or labor intensive. Therefore, we have developed a new rapid, sensitive, and simple method for determining cysteamine in biological samples (brain, kidney, liver, and plasma), using N-(1-pyrenyl) maleimide (NPM) as the derivatizing agent and reversed-phase high performance liquid chromatography (HPLC) with a fluorescence detection method (lambda(ex)=330 nm, lambda(em)=376 nm). The mobile phase was acetonitrile and water (70:30) with acetic acid and o-phosphoric acid (1 mL/L). The calibration curve for cysteamine in serine borate buffer (SBB) was found to be linear over a range of 0-1200 nM (r(2)=0.9993), and in plasma and liver matrix, the r(2) values were 0.9968 and 0.9965, respectively. The coefficients of the variation for the within-run and between-run precisions ranged from 0.68 to 9.90% and 0.63 to 4.17%, respectively. The percentage of relative recovery ranged from 94.1 to 98.6%.

Animals↗
PubMed2006

Capillary electrophoresis method development for determination of impurities in sodium cysteamine phosphate samples.

A capillary electrophoresis method for determination of impurities in sodium cysteamine phosphate-an alternative drug to use in place of cysteamine (Cystagon), Mylan Laboratories Inc.) in the treatment of cystinosis-was developed. The administration of cysteamine, divided in four doses due to the short half-life of this drug, is a helpful treatment, but several patients show intolerance, due to the very unpleasant odor and taste of cysteamine. Sodium cysteamine phosphate is less organoleptic aversive and also has a larger active time, allowing the compression of the doses to 2 per day, increasing the acceptance of the drug. In the developed method the two main decomposition products of sodium cysteamine phosphate, cystamine and cysteamine, can be determined with LOQs of 30 microg/ml (0.2%) and 16 microg/ml (0.1%), respectively. The background electrolyte is 15 mM ammonium acetate (pH 8.85) with 10% methanol and the separation takes less than 4 min. UV detection is performed at 195 nm. This volatile method was developed with the purpose of further hyphenation to a mass spectrometer.

Cysteamine↗
PubMed2005

Alpha-thiolamines such as cysteine and cysteamine act as effective transglycating agents due to formation of irreversible thiazolidine derivatives.

Non-enzymatic glycation of proteins and some phospholipids is considered to be an important factor in the genesis of diabetic complications. While this process has been viewed traditionally as entirely non-enzymatic and unidirectional, the discovery of fructosamine-3-phosphate (FN3K) and identification of FN3K-mediated deglycation mechanisms have made it apparent that non-enzymatic glycation is not unidirectional and that it can be reversed by deglycation reactions. While FN3K operates on ketosamines, the second intermediate in the non-enzymatic glycation cascade, we recently identified another potential deglycation mechanism that can operate on Schiff bases, the first intermediates of the non-enzymatic glycation process. The initial step in this postulated deglycation process is a transglycation reaction between a L.M.W. intracellular nucleophiles and a macromolecule-bound aldosamines, which regenerate unmodified proteins or phospholipids with a concomitant production of aldose-nucleophile transglycation byproducts. In vitro, transglycation occurs readily with amino acids, polyamines, thiols and thiolamines. There are indications that this reaction also occurs in vivo since in an initial GC/MS analysis of human urine we detected significant amounts of a transglycation product, glucose-cysteine (G-Cys), which was markedly increased in diabetics. Despite these encouraging early data, it is not yet clear to what extent transglycation is important in vivo and which intracellular nucleophiles are most relevant to this process. As discussed by us previously in this journal, one likely candidate for this role is glutathione since it is distributed universally and since there are well described mechanisms for removal of S-linked glutathione adducts from cells by the multi-drug-resistance (MDR) pumps. In this paper we report on another class of likely transglycating agents, alpha-thiolamines such as cysteine and cysteamine. While concentrations of these compounds in tissues are significantly lower than those of GSH, they react with Schiff bases more rapidly than GSH and, most significantly they form stable and irreversible thiazolidine products such as glucose-cysteine (G-Cys) and glucose-cysteamine (G-Ctm) that can subsequently be removed from cells. The possibility that alpha-thiolamines may play a physiological role as deglycating agents in vivo is very attractive since it suggests a possible strategy for inhibiting nonenzymatic glycation and diabetic complications that could be readily implemented through nutritional or pharmacological approaches. Such intervention is eminently feasible since there are at least three thiolamines already approved for human use. These include cysteamine used for the treatment of cystinosis; N-acetylcysteine utilized as a mucolytic and antioxidant agent, in the therapy of acetaminophen poisoning and radiocontrast-induced nephrotoxicity; and penicillamine used for treatment of Wilson's disease. Consequently, determining whether these compounds have the expected anti-glycating effects in vivo should be relatively straightforward.

Cysteamine↗
PubMed2006

[Nephrogenic diabetes insipidus].

Nephrogenic diabetes insipidus which can be inherited or acquired, is characterized by an inability to concentrate urine despite normal or elevated plasma concentrations of the antidiuretic hormone, arginine-vasopressine (AVP). Polyuria, with hyposthenuria and polydipsia are the cardinal clinical manifestations of the disease. Hypercalcemia, hypokaliemia, lithium administration and chronic renal failure are the principal causes of acquired nephrogenic diabetes insipidus. About 90 percent of patients with congenital nephrogenic diabetes insipidus are males with X-linked recessive nephrogenic diabetes insipidus who have mutations in the arginine-vasopressin receptor 2 (AVPR2) gene that codes for the vasopressin V2 receptor. The gene is located in chromosome region Xq28. In about 10 percent of the families studied, congenital nephrogenic diabetes insipidus has an autosomal recessive or autosomal dominant mode of inheritance. In these cases, mutations have been identified in the aquaporin-2 gene (AQP2), which is located in chromosome region 12q13 and codes for the vasopressin-sensitive water channel. Other inherited disorders with mild, moderate or severe inability to concentrate urine include Bartter's syndrome and Cystinosis. Identification of the molecular defect underlying congenital nephrogenic diabetes insipidus is of immediate clinical significance because early diagnosis and treatment of affected infants can avert the physical and mental retardation associated with episodes of dehydration.

Diabetes Insipidus, Nephrogenic↗
PubMed2001

Homologues of archaeal rhodopsins in plants, animals and fungi: structural and functional predications for a putative fungal chaperone protein.

The microbial rhodopsins (MR) are homologous to putative chaperone and retinal-binding proteins of fungi. These proteins comprise a coherent family that we have termed the MR family. We have used modeling techniques to predict the structure of one of the putative yeast chaperone proteins, YRO2, based on homology with bacteriorhodopsins (BR). Availability of the structure allowed depiction of conserved residues that are likely to be of functional significance. The results lead us to predict an extracellular protein folding function and a transmembrane proton transport pathway. We suggest that protein folding is energized by a novel mechanism involving the proton motive force. We further show that MR family proteins are distantly related to a family of fungal, animal and plant proteins that include the human lysosomal cystine transporter (LCT) of man (cystinosin), mutations in which cause cystinosis. Sequence and phylogenetic analyses of both the MR family and the LCT family are reported. Proteins in both families are of the same approximate size, exhibit seven putative transmembrane alpha-helical spanners (TMSs) and show limited sequence similarity. We show that the LCT family arose by an internal gene duplication event and that TMSs 1-3 are homologous to TMSs 5-7. Although the same could not be demonstrated statistically for MR family members, homology with the LCT family suggests (but does not prove) a common evolutionary pathway. Thus, TMSs 1-3 and 5-7 in both LCT and MR family members may share a common origin, accounting for their shared structural features.

Amino Acid Sequence↗
PubMed1989

Uric acid excretion in children with urolithiasis.

Urinary uric acid excretion was assessed in 38 children to determine whether hyperuricuria was a risk factor in children with urolithiasis. Uric acid excretion (measured per deciliter glomerular filtration rate), and fractional excretion of uric acid were similar in 27 children with hypercalciuria and calcium oxalate urinary stones, in six children with idiopathic calcium oxalate urolithiasis, and in five with uric acid urolithiasis, of whom four were white boys and one was an Asian girl. One boy with a urate stone had cystinosis. Serum uric acid concentrations exceeded 6.0 mg/dl (360 mumol/L) in two children with hypercalciuria and in two patients with idiopathic calcium oxalate urolithiasis. None of the children with calcium urolithiasis had excessive urinary excretion of uric acid. In children with hypercalciuria, uric acid excretion did not change significantly when dietary sodium was increased from 1.0 to 5.0 gm/1.73 m2. We conclude that excessive urinary uric acid excretion is seldom an additional risk factor in children with calcium urolithiasis and that dietary sodium chloride does not have a strong influence on urinary excretion of uric acid in children with hypercalciuria.

Adolescent↗
PubMed1989

Two case studies from a family with primary Fanconi syndrome.

We report two cases from a family with primary Fanconi syndrome. A 39-year-old white woman with a history of frequent bone fractures developed hypophosphatemia, hypouricemia, hypokalemia, metabolic acidosis, and renal glycosuria. Her 15-year-old son had renal glycosuria without metabolic acidosis. Both had mildly to moderately impaired renal function. Determination of amino acids in 24-hour urine specimens confirmed the generalized nature of aminoaciduria. Acid-loading, bicarbonate-loading, and phosphate-loading tests revealed that the mother had proximal (type II) renal tubular acidosis and excessive renal loss of phosphate for her level of renal function. These tests for the son were normal or within normal limits of his renal function. Known causes of Fanconi syndrome, such as cystinosis and Wilson's disease, were excluded by slit-lamp eye examination and leukocyte cystine level determination. One unexpected finding in the son was the preseNce of nephrocalcinosis on x-rays; a percutaneous needle biopsy of the kidney showed tubular atrophy, interstitial fibrosis, and calcium oxalate crystal deposits. The two cases presented here represent a familial variety of the primary Fanconi syndrome, a rare entity with a limited number of cases reported in the literature.

Adolescent↗
PubMed1989

Is gender a determinant for evolution of renal failure? A study in autosomal dominant polycystic kidney disease.

More males than females enter renal replacement therapy programs. This may reflect greater propensity of men to acquire renal disease, faster progression of renal disease, or a combination of both. In order to address this problem, autosomal dominant polycystic kidney disease (ADPKD), a well-defined genetically homogenous hereditary disorder, was studied. One hundred fifty-eight cases of the disease in adults were diagnosed by sonography and studied (73 men, 85 women); 58 of the patients had reached end-stage renal failure. Survival analysis of age at renal death revealed a significant gender difference (log-rank test, P = 0.0072): median age at renal death was 52.5 years in men and 58.0 years in women. In 64 patients with adequate sequential measurements of serum creatinine, progression of renal failure was followed retrospectively. When serum creatinine was greater than 3 mg/dL, the average rate of progression was similar in both sexes. In contrast to ADPKD, a sex difference for the age at renal death was not found in prepubertal individuals with hereditary renal diseases, ie, cystinosis or nephronophthisis. The data suggest that sex (hormones) influences evolution of renal failure.

Creatinine↗
PubMed1998

[What's new in pediatric nephrology?].

Advances in pediatric nephrology has been mainly characterized during the last years by a burst of knowledge in the area of genetic renal diseases: 1/almost complete understanding of Alport syndrome related to mutations of COL4A5 or COL4A3/A4 genes of collagene; 2/the mapping and cloning of the nephronophthisis gene which is deleted in 75% of cases; 3/the mapping and cloning of the cystinosis gene coding for a protein of the lysosomal membrane; 4/the mapping and cloning of the Finnish-type congenital nephrotic syndrome gene; 5/the linkage to the SNR 1 gene on chromosome 1 of a large number of familial corticoresistant nephrotic syndromes, and the disclosure of mutations of the WT1 gene in diffuse mesangial sclerosis and in Frazier syndrome. The understanding of Bartter syndrome has been also enlightened by the discovery of mutations in several ionic channels located in the distal tubule. It has been also shown that a corticoresistant nephrotic syndrome or a chronic tubular interstitial nephropathy are possible phenotypes for mitochondrial cytopathies. In the area of therapeutics, recombinant growth hormone was shown to improve statural growth of children with chronic renal failure; in addition, renal transplantation benefits from new immunosuppressants as tacrolimus and mycophenolate mofetil.

Child↗
PubMed2001

The differential diagnosis of crystals in the retina.

Crystalline deposits in the retina may be associated with a wide variety of systemic disorders such as oxalosis, cystinosis, hyperornithinaemia and Sjögren-Larsson syndrome. Refractile crystalline deposits may also be a manifestation of drug toxicity like the antineoplastic agent tamoxifen, the anesthetic methoxyflurane and the oral tanning agent canthaxanthine. Crystals may also occur in drug abusers who inject multiple crushed tablets of methadone or meperidine intravenously (talc retinopathy). The differential diagnosis of retinal crystals also includes primary ocular diseases like Bietti's crystalline retinopathy, calcified macular drusen, idiopathic parafoveal telangiectasis and longstanding retinal detachment. This article will review the most common causes of crystalline retinopathies, their etiologies, pathologies and clinical characteristics.

Crystallization↗
PubMed1982

Role of thiols in degradation of proteins by cathepsins.

The effects of thiols on the breakdown of 125I-labelled insulin, albumin and formaldehyde-treated albumin by highly purified rat liver cathepsins B, D, H and L at pH 4.0 and 5.5 were studied. At both pH values degradation was strongly activated by the thiols cysteamine, cysteine, dithiothreitol, glutathione and 2-mercaptoethanol, and its rate increased with increasing thiol concentration. Preincubation of the protein substrates with 5 mM-glutathione did not affect concentration. Preincubation of the protein substrates with 5 mM-glutathione did not affect the rate of degradation by cathepsin D or L, and determination of free thiol groups after incubation of the proteins in the presence of glutathione but without cathepsin showed that their disulphide bonds were stable under the incubation conditions. Sephadex G-75 chromatography of the acid-soluble products of insulin digestion by cathepsin D or L suggested that thiols can reduce disulphide bonds in proteins after limited proteolysis. The resultant opening-up of the protein structure would lead to further proteolysis, so that the two processes (proteolysis and reduction) may act synergistically. By using the osmotic protection method it was shown that, at a physiological pH, cysteamine, and its oxidized form cystamine, can cross the lysosome membrane and thus may well be the physiological hydrogen donor for the reduction of disulphides in lysosomes. The results are discussed in relation to the lysosomal storage disease cystinosis.

Acetylglucosaminidase↗
PubMed1975

Methionine adenosyltransferase, cystathionine beta-synthase and cystathionine gamma-lyase activity of rat liver subcellular particles, human blood cells and mixed white cells from rat bone marrow.

1. Methionine adenosyltransferase (ATP:L-methionine-S-adenosyl transferase, EC 2.5.1.6), cystathionine beta-synthase F1L-serine hydro-lyase (adding homocysteine), EC 4.2.1.22] and cystathionine gamma-lyase [L-cystathionine cysteine-lyase (deaminating), EC 4.4.1.1] activities were found only in the cytosol fraction of rat liver cells. None was found in the mitochondrial or endoplasmic reticulum fractions as judged by the distribution of marker enzymes on a density gradient after centrifugation of the cytoplasmic fraction of a liver homogenate, or in a preparation of liver cell nuclei. 2. Polymorphs, lymphocytes (with admixed monocytes) and mixed bone marrow white cells contained no methionine adenosyl transferase, cystathionine beta-synthase or cystathionine gamma-lyase activities. 3. The possible bearing of these results on the problem of abnormal cystine storage in cystinosis is briefly discussed.

Animals↗
PubMed1999

Kidney transplanted children come of age.

BACKGROUND: The aim of renal replacement therapy in children is to restore their potential for normal growth and development in order to reach mature adulthood. Because pediatric kidney transplantation started in the late 1960s, it is now possible to document the progress and outcome of these patients from transplantation in childhood to survival into adulthood. METHODS: In this single-center study, all 150 children born before December 1977 and having received a kidney transplant between 1970 and 1993 were selected for long-term follow-up. The mean age at transplantation was 12.1 years (range 3.2 to 16.7), and the mean follow-up was 13.1 years (range 2.0 to 25.0). In December 1995, 124 grown-up patients with a mean age of 25.4 years (range 18.4 to 40.3) were alive, 89 with a functioning graft. Fifty had the first graft functioning longer than 10 years. The fate of all patients was traced, and those living were analyzed in regard to their somatic and socioeconomic states. RESULTS: The actuarial 25-year survival rate for the patients was 81%, and for the first graft it was 31%. The best graft survival rates were observed after living related donation, preemptive transplantation, and immunosuppression with cyclosporine. The latter benefit, however, vanished after eight years. The mean creatinine clearance declined over the years from 76 to 45 ml/min/1.73 m2, and the incidence of hypertension increased to more than 80% of the patients. Malignancies occurred in 2.6%. Final height was stunted in 44% of noncystinotic patients, whereas all patients with cystinosis were extremely growth retarded. Twenty-seven percent suffered from additional disabilities. A majority of adult patients were rehabilitated in regard to education and socioeconomic status, and 14% were unemployed. CONCLUSIONS: The results indicate that renal transplantation in children leads to a high degree of rehabilitation in adulthood. The life of a kidney transplant, however, is limited, which points out the need for more specific immunosuppression with fewer side-effects in order to reach the goal of lifelong graft function.

Adolescent↗
PubMed2002

[Ocular Manifestation of Mucopolysaccharidosis I-S (Scheie's Syndrome)].

BACKGROUND: Bilateral stromal corneal opacifications are a differential diagnostical challenge to identify associated systemic diseases. CASE-REPORT: A 47-year old civil engineer (height 167 cm) with bilateral stromal corneal clouding presented with visual loss for the last 27 years: VA 20/100 OD and 20/50 OS (following penetrating keratoplasty OS). The cornea showed milky-whitish, cloudy, diffuse stromal deposits without a separate lipoid arc. The posterior segment showed tapetoretinal degeneration. Scotopic ERG was decreased. A suspicious stiffness of interphalangeal joints on both hands was observed. There was an aortic and mitral insufficiency grade I. Serum levels of LDL, HDL and triglycerides were normal. The biomicroscopical diagnosis of Scheie's syndrome (mucopolysaccharidosis I-S) was confirmed by a deficiency of alpha-L-iduronidase in leukocytes (0.02 nmol/min/mg protein, normal range: 0.3 - 1.5). CONCLUSION: The differential diagnosis of bilateral corneal stromal opacification includes in addition to the mucopolysaccharidoses HDL-deficiency diseases (LCAT deficiency, Tangier disease, Fish eye disease), Schnyder's crystalline stromal dystrophy, cystinosis, gout and mucolipidoses. MPS I-S may easily be detected by alpha-L-iduronidase deficiency in leukocytes and increased mucopolysaccharides in the urine. Furthermore, patients with MPS I-S need general medical care because of cardiovascular abnormalities, joint stiffness and myopathies.

Corneal Opacity↗
PubMed2003

[Ocular manifestation in LCAT deficiency--a clinicopathological correlation].

BACKGROUND: Bilateral stromal corneal opacifications are important to detect potentially associated systemic diseases. Differential diagnosis includes, besides inflammatory diseases mucopolysaccharidoses, HDL deficiencies (LCAT deficiency, Tangier disease and fish eye disease), Schnyder's crystalline corneal dystrophy, lipid keratopathy, cystinosis, gout and mucolipidoses. CASE REPORT: The cornea of a 60-year old male patient, 180 cm height, showed milky hazy diffuse stromal inclusions with a prominent lipoid arc (VA O. D. 20/30 and O. S. 20/40, contre-jour VA less than 20/150). Ten years earlier, lattice corneal dystrophy was diagnosed. The cornea was thickened (0.61 mm). Except for the cornea, the anterior and posterior segments of the eye were unremarkable. Serum HDL concentration was decreased pathologically (7 mg/dl), although the LCAT activity was combined with apo-AI deficiency. Due to membrane instability, the erythrocytes showed target cell configuration. Penetrating excimer-laser keratoplasty was performed O. S. The epithelial wound closed only on the 32nd postoperative day. Histologically, the corneal stroma showed multiple vacuoles and amyloid deposits. Genetic analysis revealed two mutations in chromosome 16. CONCLUSION: To our knowledge, this is the second description in the literature of a patient with LCAT deficiency and secondary amyloidosis of the cornea. Additionally, LCAT deficiency is associated with anaemia and proteinuria. After a penetrating keratoplasty, prolonged wound healing is possible. Because of the bilateral corneal clouding, the ophthalmologist may help to identify patients with LCAT deficiency. Thus, it is possible to start antiarteriosclerotic therapy.

Amyloidosis, Familial↗
PubMed1999

[Crystalline keratopathy as a presenting sign of multiple myeloma].

BACKGROUND: Noninfectious crystalline corneal degenerations can be classified from the clinical and genetical point of view into 3 groups: 1. primary hereditary (Schnyder), 2. secondary hereditary (cystinosis) and 3. secondary non-hereditary in association with disorders of serum protein or lipid composition. PATIENT: We report on a 63-year-old man with reduced vision and grey-white, crystalline, monomorpheous deposits in the corneal stroma. Further investigation revealed IgG myeloma. RESULTS: We performed a penetrating keratoplasty for visual improvement. On histopathological examination, typical eosinophilic, PAS-positive, interlamellar deposits staining brilliant red with Masson's trichrome were found diffusely scattered throughout the stroma. Electron microscopy showed intracellular, rhomboid-shaped deposits enveloped by a membrane. CONCLUSION: The appearance of a crystalline keratopathy should be followed by an internal examination for early detection and adequate treatment of a systemic disease.

Antineoplastic Agents, Hormonal↗
PubMed1993

[Ocular manifestations of rheumatic diseases. Cooperation between internist/ophthalmologist].

A red or painful eye may be the clue to a systemic condition, many of which are of a rheumatological or immunological nature. Conjunctivitis may occur in Sjögren's Syndrome, Reiter's Syndrome (and other sero negative spondyloarthropathies) and with infections such as chlamydia and viruses. 70% of cases of episcleritis are idiopathic, the other 30% being associated with rheumatoid arthritis or other connective tissue diseases or herpes zoster infection. Scleritis may be seen with connective tissue diseases or auto immune conditions (rheumatoid arthritis, Wegener granulomatosis, polyarteritis nodosa, relapsing polychondritis, SLE), infections (herpes, tuberculosis, syphilis, aspergillosis) or metabolic (gout, porphyria, cystinosis). Retinal vasculitis is seen in SLE, Behçet's Disease, sarcoidosis, polyarteritis nodosa, Whipple's disease and Crohn's disease among others. However, uveitis presents perhaps the greatest diagnostic challenge and interface between ophthalmology and rheumatology. Some syndromes are purely ophthalmological (eg: Fuch's heterochromic cyclitis) but others may lead to the diagnosis of a rheumatic disorder (eg: recurrent unilateral acute anterior uveitis and ankylosing spondylitis). Systemic syndromes most likely to be associated with uveitis are Reiter's disease, ankylosing spondylitis, sarcoidosis, juvenile arthritis, interstitial nephritis, inflammatory bowel disease, syphilis. The patterns are different, eg: acute painful unilateral anterior uveitis with ankylosing spondylitis and chronic asymptomatic bilateral uveitis in juvenile arthritis (ANA positive, pauci-articular) or bilateral symptomatic uveitis in sarcoidosis. An illustrative case will be presented and an algorithm for the evaluation of uveitis discussed.

Adult↗
PubMed1987

[Ocular findings in hemodialysis and following kidney transplantation in childhood and adolescence].

Between August 1980 and January 1987, 23 patients undergoing treatment for chronic renal failure underwent eye examinations. Hemodialysis and subsequent kidney transplants were performed in 18 patients; in two patients a kidney transplant was performed alone, and in three others hemodialysis without transplant. The interval between dialysis and transplantation averaged 23.1 months, the mean follow-up after transplantation 20 months. Patients who underwent hemodialysis alone were followed up for periods of two, three and 85 months. The patients' ages when hemodialysis treatment was first instituted ranged from six to 17 years (average 11.8 years). The mean age at the time kidney transplants were performed was 13.6 years (ranging from one to 17 years). Seventeen patients had conjunctival and corneal infiltrations in the area of the palpebral fissure. In two cases infiltrations were confined to the conjunctiva. Four patients had no pathologic changes, in either the cornea or the conjunctiva. Slitlamp examination revealed subcapsular losses of lens transparency in eight patients; these losses were manifested by delicate punctiform and patchy configurations. In nine cases fundus ophthalmoscopy revealed constricted retinal arteries. Within the period of observation all but one of the patients had unchanged vision. The one exception (cystinosis) had reduced visual acuity due to an accumulation of crystalline inclusions in the cornea.

Adolescent↗