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Results for “Chorioretinal atrophy”

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At least 19 recordsLinked to original sources
PubMed2025

Biallelic null variants in C19orf44 cause a unique late-onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophy.

PURPOSE: To identify the genetic cause for disease in individuals affected with inherited retinal disease and to characterize their retinal phenotype and the properties of the underlying gene. METHODS: Participants underwent a comprehensive ophthalmological evaluation, including best-corrected visual acuity, visual field testing, fundus autofluorescence, optical coherence tomography, and electroretinography. Genetic analyses included exome, genome, and Sanger sequencing. Gene expression pattern was analyzed by reverse transcription-polymerase chain reaction. Localization of the encoded protein in cells and in the human retina was examined by immunofluorescence staining. RESULTS: Four different pathogenic variants in C19orf44 were identified in 15 biallelic individuals from 11 unrelated families. The most common variant was c.549_550del p.(Ser185ProfsTer2). Most individuals were affected with a unique clinical phenotype characterized by late-onset patchy perifoveal chorioretinal atrophy and electroretinographic features of rod-cone degeneration. C19orf44 is expressed in various human tissues, including the retina, where it was found in the outer nuclear layer and in the outer plexiform layer. In cultured cells (hTERT RPE-1 and HeLa) and in human primary fibroblasts, C19orf44 is found in the nucleus, and it is downregulated during mitosis. CONCLUSION: Based on our results, C19orf44 is crucial for normal human retinal function, and pathogenic variants in this gene are associated with autosomal recessive inherited retinal disease.

Humans↗
PubMed1978

Long-term results of retinal detachment surgery.

Patients treated successfully with retinal detachment surgery 11-39 years earlier were called back and examined. The average age was 35 years at the time of surgery and the average interval between the operation and this follow-up examination was 16 years. The visual acuity had decreased in many patients. The most frequent causes of this fall in visual acuity after surgery were cataract and macular degeneration. Chorioretinal atrophy with blackish pigment spots developed in the reattached retina a long time after surgery and caused defects in the visual fields. This atrophy seems to be related to the long duration of retinal detachment before and after operation, which may cause malnutrition of the detached retina and result in incomplete recovery of visual cells, leading to chorioretinal atrophy. Macular degeneration was caused or accelerated by detachment of the macula. There was no difference in postoperative ocular findings between only diathermy and combination of diathermy with segmental scleral-buckling procedures. However, Arruga's ring suture method induced cataract more frequently than did other surgical procedures.

Adolescent↗
PubMed1978

Pigmented paravenous retinochoroidal atrophy.

A patient with paravenous pigmented chorioretinal atrophy is presented. A differential diagnosis and review of the literature are discussed. Fluorescein angiography confirms the presence of a widespread paravenous retinal pigment epithelial defect with minimally affected choroidal vasculature. The visual fields are constricted in proportion to the extent of the pigmentary abnormality. The electro-oculogram and electroretinogram show reduced responses indicative of a more extensive abnormality than is visible ophthalmoscopically. The etiology and natural course of this entity are unknown.

Adolescent↗
PubMed1978

Progressive nature of pigmented paravenous retinochoroidal atrophy.

A 30-year-old man with pigmented paravenous chorioretinal atrophy showed, within a relatively short time, changes that documented the progressive nature of this disease. These changes included: further constriction of peripheral visual fields; more extensive and frequently confluent areas of retinochoroidal atrophy; a scalloped appearance of lesions resembling posterior gyrate atrophy; peripheral pigment clumping; and the presence of localized atrophic areas with crystal deposition in the peripheral retina.

Adult↗
PubMed1978

Ocular and biochemical abnormalities in gyrate atrophy of the choroid and retina.

Patients with gyrate atrophy of the choroid and retina have myopia, constricted visual fields, elevated dark adaptation thresholds, small or nondetectable ERGs, and chorioretinal atrophy. Biochemical abnormalities include hyperornithinemia, hypolysinemia, hyperornithinuria, an unknown amino compound in the urine, and virtual absence of OKT activity in extracts of cultured skin fibroblasts. Extracts of cultured skin fibroblasts from one patient studied in our laboratory showed an increase in OKT activity with increasing concentrations of vitamin B6 in the assay medium; this patient also showed some biochemical responsiveness within three weeks to 300 mg/day or orally administered vitamin B6. Three patients whose fibroblasts did not show increased OKT activity in vitro with increasing vitamin B6 did not respond in vivo to 300 mg/day of vitamin B6 over the same period. All four patients continue to be evaluated with larger doses of this vitamin. It remains to be established if long-term treatment with vitamin B6 will stabilize the course of the chorioretinal degeneration for at least some patients with this disease.

Administration, Oral↗
PubMed1975

Lacquer crack lesions in pathologic myopia.

In evaluating the anatomic and functional status of 22 eyes of 14 patients demonstrating lacquer cracks, these lesions occurred in the eyes of young adults with posterior staphylomas and markedly increased axial lengths. Decreased visual acuity and altered visual fields were the rule; choroidal hemorrhage and focal chorioretinal atrophy were less frequently associated. Fluorescein angiography revealed early and late pseudofluorescence and late staining of the lesions. These clinical data suggest that lacquer cracks represent healed, mechanical breaks in the pigment epithelium-Bruch's membrane-choriocapillaris complex. The presence of these lesions implies a guarded prognosis for the retention of central vision.

Adolescent↗
PubMed1978

Bilateral retinal artery and choriocapillaris occlusion following the injection of long-acting corticosteroid suspensions in combination with other drugs: I. Clinical studies.

Two well-documented cases of bilateral retinal artery and choriocapillaris occlusions with blindness following head and neck soft-tissue injection with methylprednisolone acetate in combination with lidocaine, epinephrine, or penicillin are reported. One case had only a unilateral injection. The acute observations included hazy sensorium, superior gaze palsy, pupillary abnormalities, and conjunctival hemorrhages with edema. Follow-up changes showed marked visual loss, constricted visual fields, optic nerve pallor, vascular attenuation, and chorioretinal atrophy. The literature is reviewed, and possible causes are discussed.

Adult↗
PubMed1978

[Visual future of prematures].

The retinal periphery of 60 premature children now between 5 and 8 years of age and with a weight at birth equal or less than 1,500 g has been investigated. In 20% of these children, pigmentary modifications were noted which were often associated with chorioretinal atrophy. Polymorphic vascular abnormalities were seen in 14% of the cases, i.e. sinuous vessels of irregular caliber or neovascularization. Abnormalities of the vitreous body were also noted in 12% of the patients with glial bags on the periphery and sometimes potentially dangerous tractions folds (4%). All these abnormalities could cause complications such as retinal tear, retinoschisis or retinal detachment. Even if these signs are discrete, they can later on be the source of complications. Refraction studies revealed 30% of myopic children. The most important group had myopias equal or higher than 8 d. The characteristics of the myopia of premature children are its constancy (all premature children are myopic at birth); its importance (it depends on birth weight and on the severity of the retinopathy), and its evolution (the myopia of premature children does not evolve or evolves very slightly).

Birth Weight↗
PubMed1979

Variation of phenotype in Charcot-Marie-Tooth disease.

A two year old from a family with typical Charcot-Marie-Tooth disease has extensive ocular and central abnormalities, severe generalized neuropathy, and amyotrophy. Many abnormalities previously described in association with Charcot-Marie-Tooth disease are combined in this patient, including chorioretinal degeneration, optic atrophy, facial weakness, oligophrenia, and generalized amyotrophy. Documentation of the diagnosis in the child's ancestors and the precedent for each of his abnormalities suggest that these features represent a virulent expression of the inherited defect.

Amyotrophic Lateral Sclerosis↗
PubMed1977

Autosomal recessive microcephaly associated with chorioretinopathy.

Two sisters and their brother affected with microcephaly, microphthalmia, chorioretinal degeneration, and optic atrophy were studied. Besides the clinical features derived from the main abnormalities, nanosomy and cutis marmorata were found in the three patients. Both parents and three other sibs were normal. Possible intrauterine non-genetic etiologic factors (X-rays, toxoplasmosis, cytomegalovirus) which can lead to phenocopies were investigated with negative results. Based on these and previous observations, it seems clear that a distinct form of autosomal recessive microcephaly associated with chorioretinal degeneration can be separated from the heterogenous group of entities which presents microcephaly.

Child↗
PubMed2025

Exome sequencing identifies a homozygous splice site variant in RP1 as the underlying cause of autosomal recessive retinitis pigmentosa in a Pakistani family.

BACKGROUND: Mutations in RP1 gene are the third leading cause of inherited retinal dystrophies (IRDs) in Pakistani families. PATIENTS: A two-generation consanguineous Pakistani family underwent both clinical and genetic analyses. Clinical examinations included visual acuity test, visual field, fundoscopy, and ocular coherence tomography (OCT). Whole exome sequencing (WES) was performed on the proband's DNA, and Sanger sequencing was performed to validate the WES findings. Splicing prediction tools such as Human Splicing Finder (HSF), NNSplice predictor, SpliceAI, MaxENTScan, and SpliceRover were used. RESULTS: A nuclear family of seven children, comprising five affected individuals (four males and one female) and two healthy siblings, was recruited from northwestern Pakistan. The proband was a 49-years old male who was presented with complaints of decreased visual acuity and night blindness since early childhood. Upon clinical evaluation, the proband appeared to have severely reduced visual acuity of hand movement (HM), bilateral visual field constriction, a waxy pale disc with vascular attenuation, pigmentary bone spicules at the periphery associated with chorioretinal degeneration, diffuse macular atrophy, and horizontal nystagmus in both of his eyes. Exome sequencing (ES) in the proband identified a homozygous splice site variant (NM_006269.2: c.615 + 1G > A) in RP1 gene. In-silico analysis, genotype-phenotype co-segregation study, and literature survey strongly supported the causality of the detected variant. CONCLUSIONS: We report a previously known pathogenic splice site variant of RP1 as the underlying cause of early-onset autosomal recessive retinitis pigmentosa (arRP) in a Pakistani family. We contemplate that the detected allele might constitute a mutational hotspot in RP1.

Humans↗
PubMed1977

Central areolar choroidal dystrophy.

Three members of a family with central areolar choroidal dystrophy showed the early and late stages of this disorder. The youngest affected was a 12-year-old girl who exhibited decreased vision, a red-green dyschromatopsia, and mild granularity of the macula with a diffuse foveal reflex. A discrete focal loss of choriocapillaris in the macula was seen on fluorescein angiography. This indicates that choriocapillaris atrophy is an early finding in this disease.

Adolescent↗
PubMed1978

Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retina.

Gyrate atrophy of the choroid and retina is a chorioretinal degeneration associated with hyperornithinemia with an autosomal recessive mode of inheritance. Cultured skin fibroblasts from five affected patients showed a virtual absence of ornithine ketoacid transaminase (OKT) (L-ornithine:2-oxoacid aminotransferase E.C.2.6.1.13) activity. Fibroblasts from four carrier parents showed a 42%-65% reduction in OKT activity. Increasing the concentration of pyridoxal phosphate (vitamin B6 in the assay media resulted in partial restoration of OKT activity in fibroblasts from one out of five patients studied. We conclude that OKT deficiency is closely associated with the genetic defect in gyrate atrophy of the choroid and retina and that genetic heterogeneity exists in this disease.

Adolescent↗
PubMed1977

Gyrate atrophy of the choroid and retina: deficiency of ornithine aminotransferase in transformed lymphocytes.

Gyrate atrophy of the choroid and retina is an inherited form of chorioretinal degeneration associated with hyperornithinemia. We measured the activity of ornithine aminotransferase (L-ornithine:2-oxo-acid aminotransferase, EC 2.6.1.13) in phytohemagglutinin-stimulated lymphocytes of a patient with gyrate atrophy and her daughter. The patient's cells had no detectable ornithine aminotransferase activity, and the activity in the heterozygote's cells was 44% of normal values. Measurements of [3H]thymidine incorporation and other transformation-affected enzymes verified that the patient's cells were transformed. These results demonstrate an enzyme deficiency in gyrate atrophy.

Adult↗
PubMed1978

Hyperornithinemia and gyrate atrophy of the choroid and retina.

The diagnosis of hyperornithinemia and gyrate atrophy (HOGA) depends upon the presence of five characteristic features: (1) typical chorioretinal lesions, (2) high myopia, (3) cataracts, (4) hyperornithinemia, and (5) autosomal recessive inheritance. We have seen three patients and described four new findings: (1) decreased whole blood glutamic acid, (2) low normal intelligence, (3) hepatic mitochondrial changes, and (4) urinary excretion of ornithine methyl ester. Investigations of amino acid metabolism in vivo are consistent with the presence of a defect in ornithine keto-acid transaminase.

Adult↗