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Article

Congenital Bilateral Retinal Detachment in Two Siblings with Osteoporosis-Pseudoglioma Syndrome.

Ophthalmic genetics - 1 Jan 2015

Welinder Lotte G, Robitaille Johane M, Rupps Rosemarie, Boerkoel Cornelius F, Lyons Christopher J

Abstract excerpt

The birth of a bilaterally blind child is catastrophic for families and a challenging diagnostic and management problem for ophthalmologists. Early identification of the underlying cause and its genetic basis helps initiate possible treatment, delineate prognosis, and identify risks for future pregnancies. In some cases, an early diagnosis can also influence the treatment of other family members. We report two...

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Source

Identifiers

PMID: 25945592
DOI: 10.3109/13816810.2015.1016240

Genes

LRP5
FZD4
NDP

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