[Bilateral macular pseudocoloboma associated with chronic renal insufficiency in two sisters].
We report Meier's syndrome in two sisters, with combined macular pseudocoloboma and end-stage renal failure. The two sisters, aged 12 and 17 years, presented with a bilateral macular coloboma and slight myopic shift reducing visual acuity to 20/60 in one sibling and 20/100 in the other sibling. No other ocular abnormalities were present. The electroretinograms were normal. In both patients renal grafts were performed with good results. The mother and the 4 other siblings were unaffected. This observation underlines the need to check kidney function in case of bilateral pseudocoloboma.
Ben Mehidi
A
A
Service d'Ophtalmologie, Hôpital Lariboisière, Paris.
Massin
P
P
Paques
M
M
Erginay
A
A
Gaudric
A
A
Leys
A
A
D000293:Adolescent; D002648:Child; D003103:Coloboma / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D006801:Humans; D007676:Kidney Failure, Chronic / Q000150:complications* / Q000235:genetics*; D008266:Macula Lutea / Q000002:abnormalities*; D008297:Male; D009216:Myopia / Q000209:etiology; D009679:Nuclear Family; D014792:Visual Acuity
Pseudocolobome maculaire bilatéral associé à une insuffisance rénale chronique chez deux soeurs.