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P. Bitoun, C. Edelson, M. Meyer–Charuel, B. Benzacken, E. Semina, L. Benzacken, S. Bitoun, J. Murray, J. Gaudelus; Clinical and Genetic Study of a Cohort of 26 patients with Micro–Anophthalmia . Invest. Ophthalmol. Vis. Sci. 2006;47(13):4618.
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:To study the clinical phenotype and genetic causes of a cohort of 26 consecutive patients with congenital micro/anophthalmia (MA) seen at a pediatric eye clinic.
Patients where assessed by a pediatric ophthalmologist and an ophthalmic geneticist to define ocular and extra ocular dysmorphogy phenotype. Brain MRI , karyotype telomeric screen and CGH array were done on some patients.Gene mutation analysis performed by pcr and sequencing are ongoing for several genes including PITX3,OTX2,SOX2,BCOR,ND,NHS,LRP5
The cohort was divided into primary and secondary MA (post infectious, post–surgical, post retinal detachment or post–phthisis) The cohort is comprised of 26 patients 2 months to 28 years (average 6 years), 7 (27%) females and 19 (63%)males.20 patients(77%) had primary MA and 6 (23%)had secondary MA. Blindness affected 12/20 (60%) patients with primary MA versus 2/6 (33%) with secondary MA. Patients were classified as ocular alone in 4/20 ( 25%) of primary MA versus 6/6 (100%) with secondary MA or syndromic in 75% of primary MA versus none of the secondary MA patients. MA was unilateral in 2/20 (10%) of primary MA and in 3/6 (50%) of secondary MA patients. 2/20 patients with primary MA died and none of the 6 secondary MA.
Associated findings in syndromic cases included brain, neurologic,pituitary,mental retardation ,autism,dental,cleft palate,cardiac, pulmonary,diaphragmatic,genito–urinary, limb,or bone disorder.
Genetic evaluation showed 5 familial case (4 autosomal dominant and one possibly autosomal recessive). One patient had a ring chromosome 18; 2 patients had Norrie disease(ND), one had Nance Horan (cataract dental) syndrome (NHS)
Primary congenital MA is a moderately severe bilateral(90%)sometimes familial (15%)syndromic (75%)rarely lethal (10%)disorder affecting mostly males(63%),causing blindness(60%) associated with multiple malformations. The excess of males and the paucity of X linked genes involved seems to imply that most X linked genes involved with MA are yet unknown
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