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PubMed1987

Prevalence and mode of inheritance of major genetic eye diseases in China.

The prevalence and mode of inheritance of major genetic eye diseases have been investigated in China since the establishment of the Section of Ophthalmic Genetics of the Chinese Society of Genetics. Mass screening of genetic eye diseases has been undertaken in many districts in China, covering more than 700,000 people, and more than 5000 pedigrees of genetic eye diseases have been collected and analysed all over China. Based on these data, the prevalence and mode of inheritance of dyschromatopsia, degenerative myopia, retinitis pigmentosa, congenital ptosis, congenital microphthalmos, congenital cataract, congenital glaucoma, Leber's optic atrophy, corneal dystrophy, congenital nystagmus, coloboma of the eye, congenital aniridia, retinoblastoma, macular dystrophy, simple myopia, primary glaucoma, and strabismus have been investigated, and the results are presented.

China↗
PubMed1998

The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies.

The PAX2 gene is mutated in patients with ocular colobomas, vesicoureteral reflux (VUR), and kidney anomalies (renal-coloboma syndrome, OMIM 120330). The three abnormalities which make up this syndrome also occur in isolation, but the causal genes are not known. PAX2 encodes a transcription factor of the paired box class of DNA binding proteins, important for the development of the urogenital tract, optic nerve and adjacent retina, inner ear, and CNS. In this paper we have investigated the prevalence of PAX2 mutations in patients with ocular colobomas, microphthalmos, or retinal anomalies, either in isolation or with associated urogenital anomalies. Using PCR-SSCP, most or all exons of PAX2 were examined in blood DNA from 99 patients who have either ocular anomalies alone or a combination of ocular and urogenital conditions. PAX2 mutations were not detected in patients with ocular colobomas, either in isolation or with associated abnormalities, except in one patient with typical renal-coloboma syndrome. We conclude that PAX2 mutations are unlikely to be common in patients with ocular colobomas in isolation or in patients with ocular colobomas and associated anomalies, except for patients with typical renal-coloboma syndrome where PAX2 is known to be the aetiological cause.

Abnormalities, Multiple↗
PubMed1981

Use of the ocutome in anterior segment surgery.

9 patients are presented on whom anterior vitrectomy was performed. The indications included congenital rubella cataract with microphthalmos, traumatic cataract, persistent anterior and posterior hyperplastic primary vitreous, postcataract pupillary membranes, and postcataract vitreous prolapse with cystoid mascular edema. All patients to date have responded satisfactorily to the procedure. There has been no incidence of complicating retinal detachment.

Adult↗
PubMed2003

Unilateral giant coloboma of the upper eyelid associated with other congenital anomalies (33 years follow-up of surgical repair).

PURPOSE: To describe a case of congenital unilateral giant coloboma and its successful surgical repair with 33 years of follow-up. CASE REPORT: A 6-year-old boy presented with a congenital unilateral giant coloboma of the right upper eyelid associated with madarosis of the eyebrows, microphthalmos, dystopia of the hair, and coloboma of the apex of the nose. The patient underwent surgical repair of the multiple anomalies in different steps. DISCUSSION: A multiple-step, two-layer technique for the reconstruction of the right upper eyelid was performed in a 6-year-old boy with congenital unilateral giant coloboma associated with multiple ocular and facial anomalies. After 33 years of follow-up, the cosmetic results are excellent, although it has not been possible to preserve the visual function of the right eye, which had to be enucleated.

Abnormalities, Multiple↗
PubMed1977

Histiocytoid cardiomyopathy of infancy: an unexplained myofibre degeneration.

An unusual multifocal degeneration of the myofibres of all chambers and the conducting system of the heart was found in a 4-month-old female in whom ventricular pre-excitation (Wolff-Parkinson-White syndrome) had been demonstrated. There was a complex malformation of the brain with hydrocephalus and bilateral corneal opacities and microphthalmos. The affected myofibres had a swollen vacuolated or granular cytoplasm and rounded nuclei giving a histiocytoid appearance. Disruption of myofibrils and gross dilation and disorganization of mitochondria were the major fine structural features. Reports of similar lesions in 8 other young female children are reviewed. 'Histiocytoid cardiomyopathy' is the term preferred over others which refer to an increased lipid content. The aetiology is unknown.

Autopsy↗
PubMed1989

Papillo-renal syndrome. An inherited association of optic disc dysplasia and renal disease. Report and review of the literature.

A family is described in which the father and son had chronic renal disease of early onset and bilateral optic nerve dysplasia. A further son, known to have microphthalmos died of renal disease in childhood. Optic nerve changes included coloboma in the father and Handmann's optic nerve anomaly, a condition resembling the morning glory syndrome (M.G.S.), in the son. There was electrodiagnostic and visual field evidence of optic nerve dysfunction even where acuity was relatively unaffected. The son developed central serous retinopathy, a condition frequently encountered in association with optic nerve dysplasias, including M.G.S.

Adult↗
PubMed1989

Ocular findings in a 4 p- deletion syndrome (Wolf-Hirschhorn).

The ocular findings in a newborn with Peters' anomaly and opacity of the lens led to a search for a chromosomal deletion syndrome, confirmed by DNA autoradiography as a partial monosomy 4, Wolf-Hirschhorn syndrome. The child was followed for 13 months. Multiple physical anomalies were observed including incomplete nasal cleft, cerebellar malformations, congenital heart defects, renal malformations, inguinal hernia, malformations of thumbs and toes. Broad beaked nose, broadened nasal root, epicanthus, defect of the medial half of the eyebrows, right-sided facial hypoplasia were the periocular findings. Bilateral microphthalmos, Peters' anomaly with cataracts, and posterior chambers without evident pathology, were found. If the physical development stays satisfactory, anterior segment reconstructive procedures including lensectomy and corneal grafting may prove successful.

Anterior Chamber↗
PubMed1990

Multiple congenital anomalies associated with Duane's syndrome.

A 33-year-old man had Duane's retraction syndrome, microphthalmos, mixed hearing loss, short fingers and toes, and horseshoe kidneys on both sides and a right epibulbar lipodermoid. The patient had undergone surgical procedures to correct a cleft lip and palate and a left undescended testis. His parents were first cousins. Results of a chromosomal study revealed a normal male karyotype. The association of multiple congenital malformation in this patient may be rare.

Abnormalities, Multiple↗
PubMed1992

A new look at the management of the oculo-mandibulo-facial syndrome.

The authors review the literature on the oculo-mandibulo-facial syndrome and present the case of a six-year-old boy with congenital cataracts, microphthalmos, nystagmus, failure to thrive, dysmorphic features with a tiny pinched nose, mandibular hypoplasia, microstomia, double chin, chronic snoring, recurrent respiratory infections and dental problems. Chronic obstructive sleep apnoea with decreased oxygen saturation was present. Optimal medical management of OMFS-patients is described.

Abnormalities, Multiple↗
PubMed1992

Peters' anomaly and combination with other malformations (series of 16 patients).

A series of 15 patients with Peters' anomaly observed from 1987-1991 and a patient showing Wolf-Hirschhorn syndrome were studied retrospectively. Combined ocular anomalies were: microphthalmos (9x), myopia (4x), aniridia (2x), cataract (2x). Five of the patients had combined general anomalies: mental retardation, deafness, cardiac malformation (ASD II), and luxatio coxae. In two of them chromosomal anomalies were found: 4p minus syndrome, mosaic trisomy 9. After comparison of these data with those known from the literature the author confirms that Peters' anomaly is a morphologic finding rather than a distinct entity. Treatment depends on individual histopathologic findings and on the psychophysical development of the child.

Abnormalities, Multiple↗
PubMed2005

Bilateral retinal dysplasia and secondary glaucoma associated with homozygous protein C deficiency.

PURPOSE: Protein C deficiency is an autosomal recessive disorder, which predisposes the patient to potentially blinding and widespread lethal thromboembolic complications, especially in the homozygous type. We here report the first Korean case of ophthalmic involvement and its surgical treatment in homozygous protein C deficiency. METHODS: A 3.4kg, full term girl was born by normal delivery but showed bilateral leukocoria on day 2. Laboratory results disclosed a very low protein C activity level (10%) in the patient and moderately decreased levels in the other family members. Ophthalmic examination showed bilateral corneal opacity and shallow anterior chamber. B-scan ultrasonography which showed intravitreal mass lesions without microphthalmos and a funnel-shaped retinal detachment suggested bilateral retinal dysplasia. RESULTS: As the eyes were under progression of secondary glaucoma, bilateral lensectomies were performed at 2 months old and corneal opacity was regressed to some degree. However, at 14 months old, the left eye showed moderate corneal opacity with a band keratopathy. CONCLUSIONS: Although visual outcome was very poor after surgery, we could impede or slow down the progression of secondary glaucoma and save the eyeballs in the infant with homozygous protein C deficiency.

Anterior Chamber↗
PubMedDate not supplied

Congenital hereditary bilateral nonattachment of retina: a sibship of two males.

Two brothers, the only two children of nonconsanguineous parents, have no perception of light, bilateral microphthalmos, and degenerative corneal opacities that just allow observation of shallow anterior chambers and cataracts. The right eye of the older was removed at the age of 6 weeks: "congenital retinal detachment" was found. The birth of a subsequent affected son suggests that recessive genes are responsible. An X-linked gene is calculated to be more likely than autosomal recessive genes. These two males may suffer from a form of Norrie's disease without mental deficiency, however, they may be examples of the severest form of "falciform retinal folds" (autosomal recessive) or they may represent the same end-result from a different inherited pathological process. After the birth of the first affected child, the parents had been reassured that this undiagnosed, and at that time unknown condition, would not affect future children. The tragedy of a second affected child followed. We suggest that recessive genes (autosomal or X-linked) be specifically considered--with literature search--in any sporadic case of a bilateral symmetrical condition of the eyes not hitherto well known, especially if congenital, and in the absence of consanguinity of parents affected males in previous maternal generations. The possibility of a dominant mutation when a single case occurs in a sibship should also be considered.

Genes, Recessive↗
PubMedDate not supplied

Pars plicata lensectomy/vitrectomy for developmental cataract extraction: surgical results.

Fifty-two cases of developmental cataracts extracted using the pars plicata lensectomy/vitrectomy technique were reviewed. Eyes with additional ocular anomaly other than microphthalmos were not included. No early complications were detected in a postoperative period ranging from 1.5 to 7 years with a median of 4 years, and late complications were limited to secondary membranes occurring in small eyes. Since secondary membranes occurred only in eyes in which the axial length was less than or equal to 17.4 mm and the corneal diameter was less than or equal to 9.5 mm, we suggest that eyes that are small by the absolute dimensions cited here are at greater risk of developing secondary membranes postoperatively. Small eyes by absolute dimensions should be distinguished from microphthalmic eyes, since the relative term microphthalmic is less predictive of risk of complication than are absolute dimensions. Linear Snellen acuity in 15 patients capable of response ranged as follows: 20/20-20/80 with a median of 20/40 in eyes with partial bilateral cataracts; 20/25-20/80 with a median of 20/50 in eyes with complete bilateral cataracts; 20/30-20/400 with a median of 20/200 in eyes with unilateral partial cataracts; and 20/60-CF with a median of 20/400 in eyes with complete unilateral cataracts. Mean patient ages at surgery were 3 months for those with bilateral complete cataracts, 5 months for those with unilateral complete cataracts, 18 months for those with bilateral partial cataracts, and 25 months for those with unilateral partial cataracts. The earliest possible removal of visually significant opacities must be combined with aggressive postoperative visual rehabilitation to obtain the best possible visual outcome.

Cataract Extraction↗
PubMedDate not supplied

Chorioretinal lacuna in the amniotic band syndrome.

The malformations in the amniotic band syndrome (ABS) are due to entrapment of fetal parts by fibrous band in the amniotic sac. Limbs are most commonly affected followed by craniofacial defects in one third of patients. Ocular defects include corneal leukomas and lid colobomas often contiguous with facial clefts, strabismus, hypertelorism, and microphthalmos. Unilateral chorioretinal defects or lacunae are rare findings in the ABS. We report a female infant with such a lacunar defect along with central nervous abnormalities, and discuss the differential diagnosis and the embryopathic implications.

Abnormalities, Multiple↗
PubMedDate not supplied

Infantile glaucoma associated with the Diamond-Blackfan syndrome.

Diamond-Blackfan syndrome is a rare congenital hematologic disorder characterized by isolated erythroid hypoplasia. Physical abnormalities such as short stature, thumb deformities, and ophthalmic findings including strabismus, hypertelorism, and microphthalmos have been reported to occur with this disease entity. We describe two patients with this blood dyscrasia and infantile glaucoma with trabeculodysgenesis. Both patients underwent multiple surgical procedures to control their glaucoma. The patients were on chronic systemic adrenal corticosteroid therapy for their anemia, which caused some confusion regarding the etiology of their glaucoma. To our knowledge, this is the first report of an association of infantile glaucoma with Diamond-Blackfan syndrome. We hope this report will encourage early recognition and treatment of glaucoma in patients with this disorder.

Child↗
PubMedDate not supplied

Is the phakic eye normal in monocular pediatric aphakia?

This retrospective review of 97 pediatric patients who underwent monocular surgery for congenital or developmental cataracts studied the incidence of abnormalities in the contralateral phakic eye. Fifty-nine percent of patients had a normal phakic eye. However, 40 patients showed at least one abnormality in the phakic eye: reduced vision (21%), nystagmus (19%), cataract (15%), iris heterochromia (9%), myopia (6%), microphthalmos (6%), pupillary miosis (2%), congenital glaucoma (2%), optic nerve abnormality (2%), aniridia (1%), and corneal opacity (1%). Not all abnormalities were detected at the time of diagnosis of the contralateral cataract. The more significant findings of reduced vision and nystagmus in the phakic eye were usually detected postoperatively, often several months after the optimum time for treatment of pediatric cataracts. We suggest that monocular cataract surgery not be delayed. This will allow the best vision to be obtained for the aphakic eye, as the "sound eye" may not always be normal in monocular pediatric aphakia.

Aphakia, Postcataract↗
PubMedDate not supplied

Tuberous sclerosis in infancy.

PURPOSE: To report two infants with tuberous sclerosis who initially were considered to have retinoblastoma. PATIENTS AND METHODS: An 8-day-old infant was referred with small tumors in the posterior poles of both eyes. A left microphthalmos with ciliochoroidal coloboma was present. Computed tomographic (CT) scanning of the brain showed scattered high-density subependymal foci in the lateral ventricle thought to be consistent with calcification resulting from intrauterine viral infection. Argon laser photocoagulation was applied to lesions in the right eye. Because one tumor was situated on the retina straddling the coloboma in the left eye, external beam radiotherapy was administered. A 5-month-old girl presented with a large mass in a left microphthalmic eye. Calcification was present on B-scan ultrasonography and CT scanning. Vitreous seeding was noted to originate from the tumor. The contralateral eye manifested four small gray translucent retinal tumors in the posterior pole. CT scan and magnetic resonance imaging (MRI) revealed multiple periventricular subependymal lesions, including one at the foramen of Monro. RESULTS: Repeated examinations in the younger child under anesthesia revealed small new retinal lesions that appeared to enlarge gradually. She developed intractable seizures and her electroencephalogram revealed a modified hypsarrhythmia recording. A careful review of available CT scans and MRI displays suggested the diagnosis of tuberous sclerosis. The child's most recent examination under anesthesia revealed multiple newly developed hamartomas. In the older child, prompt diagnosis was made on the basis of the intracranial radiologic findings. CONCLUSION: Retinal hamartoma presentation may vary in infancy. Small, initially fleck-like gliotic lesions appear to enlarge gradually and eventually may form gray, translucent tumors. Large astrocytic hamartomas of the retina associated with tuberous sclerosis may resemble retinoblastoma, particularly if the mass is large, calcified, and associated with vitreous seeding. Although ophthalmic presentation was reminiscent of retinoblastoma in both patients, radiologic evidence of subependymal hamartomas pathognomic for tuberous sclerosis helped establish the correct diagnosis. We stress the importance of intracranial radiologic findings in this regard.

Diagnosis, Differential↗