Cases reported • Aniridia

1/17. PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation.

Congenital aniridia is due to deletions and point mutations in the PAX6 gene. We describe here a case of a mother and her two sons with a syndrome comprising congenital aniridia, ptosis, and slight mental retardation. The sons also show behavioral changes. The possibility of deletion around the PAX6 locus was excluded by polymorphism studies and fluorescence in situ hybridization analysis. Mutation screening of the PAX6 gene revealed the presence of a transversion C719A, resulting in the substitution of arginine for serine at residue 119. We suggest that this missense mutation is responsible both for aniridia and ptosis, and possibly also for the observed cognitive dysfunction in this family.

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keywords = syndrome
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2/17. aniridia as part of a wagr syndrome in a girl whose brother presented hypospadias.

aniridia can arise as part of the wagr syndrome (Wilms tumour. aniridia, genitourinary anomalies, and mental retardation), due to a deletion or chromosomal region 11p13. We report a girl with a complete wagr syndrome, whose brother presented hypospadias. Cytogenetic, FISH and molecular studies showed a deletion in one chromosome 11 of the patient. No cytogenetic rearrangement or deletion affecting the genes included in this region (PAX6 and WT1) were observed in her brother and parents. This excludes a higher risk than that of the general population for developing Wilms tumour in the brother and supports that the presence of wagr syndrome in the patient and hypospadias in her brother is a chance association. We conclude that the identification and definition of the deletions in the WAGR region, which include the WT1 locus are important in order to identify a high tumour risk in infant patients with aniridia including those without other WAGR anomalies.

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3/17. aniridia and Brachmann-de lange syndrome: a review of ocular surface and anterior segment findings.

PURPOSE: To review the ocular surface and anterior segment findings in Brachmann-de lange syndrome and describe a new case involving aniridia and congenital glaucoma. methods: A newborn presented 2 days after birth with bilateral cloudy corneas, photophobia, and epiphora. We provide a 5-year descriptive history and clinical course with review of the literature on Brachmann-de lange syndrome. RESULTS: Multiple ocular surgeries were performed for ocular sequelae from aniridia and congenital glaucoma including Ahmed valve placement and penetrating keratoplasties in both eyes. At 5.5 years of age, the child had a clear graft OD and amblyopia from graft failure OS following recurrent graft infections. A review of Brachmann-de lange syndrome found 43 patients with ocular surface and anterior segment findings. The most common findings included conjunctivitis, blepharitis, microcornea, and corectopia. aniridia and congenital glaucoma were not previously reported with Brachmann-de lange syndrome. CONCLUSIONS: Ocular surface and anterior segment abnormalities must be considered when examining patients with Brachmann-de lange syndrome. Ocular findings may include vision-threatening anomalies, as in our case with aniridia and congenital glaucoma. To our knowledge, these findings are previously unreported in Brachmann-de lange syndrome.

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ranking = 10.003332234172
keywords = syndrome, failure
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4/17. aniridia-Wilms' tumour syndrome--a case report.

Wilms' tumour is rarely associated with sporadic non-familial congenital aniridia. A child with sporadic aniridia has a 25% chance of subsequently developing Wilms' tumour. Unawareness of this association can lead to a delayed diagnosis of Wilms' tumour. One such case in a 2 year old is reported. Wilms' tumour, one of the common childhood malignancies, is associated with other congenital anomalies in about 15% of cases. These include hemihypertrophy, genitourinary abnormalities, mental retardation, aniridia etc. Sporadic non-familial aniridia was noted in only 1.1% of 547 children with Wilms' tumours evaluated by the National Wilms' Tumour study group. Unawareness on the part of a clinician about these associated anomalies can lead to an avoidable delay in diagnosing Wilms' tumour. One such case in a two year old girl is being reported.

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5/17. Phenotypic variations in patients with a 1630 A>T point mutation in the PAX6 gene.

BACKGROUND: The extreme clinical case-to-case variability of aniridia, even within families, can cause difficulties in making the correct diagnosis, prognosis and treatment plan. We describe seven patients from two families demonstrating variable expression of this syndrome, all with the same single point mutation within the PAX6 gene. methods: Case presentations. The authors review the clinical ophthalmic findings of the aniridia-keratopathy syndrome from two families, one involving four generations, the other with two generations. polymerase chain reaction amplification of all 14 exons of the PAX6 gene was performed for five patients. RESULTS: The iris findings varied from classic total absence to nearly normal iris appearance. Corneal changes were minimal in the younger patients but vision-impairing in the older. None of the patients had glaucoma. The five patients who underwent dna analysis shared the same PAX6 point mutation defect (1630A>T). INTERPRETATION: Bilateral corneal changes progressing from mild opacification at the limbus to vascularized central keratopathy, especially in the presence of nystagmus, are highly suggestive of a PAX6 mutation. Such patients may theoretically benefit from early limbal stem cell replacement therapy.

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6/17. Bilateral Duane syndrome and bilateral aniridia.

duane retraction syndrome has been reported in association with structural abnormalities of the eye, including epibulbar dermoid, keratoconus, iris dysplasia, heterochromia iridis, persistent fetal vasculature, cataract, choroidal coloboma, microphthalmia, and optic nerve dysplasia. A novel association, that of bilateral Duane syndrome with bilateral aniridia, is the subject of this report.

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7/17. Gillespie syndrome: two further cases.

We describe two unrelated male children with Gillespie syndrome, a rare genetic disorder consisting of cerebellar ataxia, partial aniridia, and psychomotor delay. One was more severely affected than the other, but neither had evidence of neuroregression. Partial aniridia was a key diagnostic marker, present at birth in both patients. Neurocognitive impairment and cerebellar ataxia were severe in one and mild in the other. The genetics of this condition remain undefined. Although believed to be an autosomal recessive condition, no clear, single candidate gene has been identified.

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8/17. Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation.

BACKGROUND: Gillespie syndrome is a rare variant form of aniridia, characterized by mental retardation, nonprogressive cerebellar ataxia, and iris hypoplasia. Unlike the more common dominant and sporadic forms of aniridia, there have been no associated PAX6 mutations or Wilms' tumor reported in Gillespie syndrome patients. Ocular findings in 21 cases published since Gillespie's initial description in 1965 include iris and foveal hypoplasia, nystagmus, and small optic discs with pigmentary retinopathy. CASE REPORT: We herein report a case of atypical Gillespie syndrome associated with bilateral ptosis, exotropia, corectopia, iris hypoplasia, anterior capsular lens opacities, foveal hypoplasia, retinal vascular tortuosity, and retinal hypopigmentation. Neurologic evaluation revealed a mild hand tremor and learning disability, but no ataxia or cerebellar abnormalities on neuroimaging. Sequencing studies revealed a substitution in intron 2 of the PAX6 gene (IVS2 + 2T > A). To our knowledge, this is the first mutation of PAX6 gene reported in association with a Gillespie-like syndrome.

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9/17. Indications for keratoepithelioplasty.

Thirteen patients with ocular surface failure were treated by keratoepithelioplasty using allografts of corneal limbal epithelial cells from donor eyes. The ocular surface was stabilized with long-term healing of persistent epithelial defects in five of eight eyes followed up for 4 to 19 months. The procedure was performed on an additional 5 patients with superficial keratopathies. Three of those five procedures resulted in a stable and clear optical surface. These results suggest that epithelial transplantation may be a useful option in the care of chronic ocular surface failure unresponsive to conventional medical management.

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keywords = failure
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10/17. obesity: a new feature of WAGR (del 11p) syndrome.

A 6-year-old girl with del(11)(p14p12) is reported. This girl has the multiple congenital anomalies that defines the wagr syndrome (aniridia, external genital hypoplasia and severe mental retardation). She has, in addition, very severe obesity (+10 SD) which is not a feature usually described with WAGR association.

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