Leber's congenital amaurosis with associated nephronophthisis.
The authors present a case of a 15-year-old girl with Leber's congenital amaurosis with associated nephronophthisis. The main findings in this case are: congenital blindness; enophthalmos; photophobia; nystagmus; keratoconus; cataracts; pigmentary degeneration in the fundus of both eyes; progressive uremia with absence of hematuria, proteinuria, pyuria, and glycosuria; low urinary density, normal lipidic profile; osteoporosis; absence of edema; polydipsia; polyuria; and a history of consanguinity between her parents. Tranmission of this entity allows an autosomal recessive pattern.
D000293:Adolescent; D001766:Blindness / Q000150:complications* / Q000151:congenital; D002386:Cataract / Q000150:complications; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007640:Keratoconus / Q000150:complications; D007674:Kidney Diseases / Q000150:complications*; D008297:Male; D009759:Nystagmus, Pathologic / Q000150:complications; D011141:Polyuria / Q000150:complications; D012162:Retinal Degeneration / Q000150:complications; D013894:Thirst; D014511:Uremia / Q000209:etiology*