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MR Barakat, L Rose, W-X Tang, TS Aleman, MJ Pianta, AV Cideciyan, VC Sheffield, EM Stone, SG Jacobson, AH Milam; Clinicopathologic Analysis of the Retina of a Young Patient with Leber Congenital Amaurosis . Invest. Ophthalmol. Vis. Sci. 2002;43(13):4604.
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Purpose: With the recent success of gene therapy to correct vision loss in a canine model of Leber congenital amaurosis (LCA), it is important to learn if the retina of a young LCA patient might be suitable for gene therapy. This information is not available in the literature. To meet this need, we documented the histopathologic features of a post mortem donor retina from a clinically characterized 12 year old LCA patient. Methods: Clinical and retinal function studies were studied in the LCA patient donor and family members. The LCA donor and two normal retinas were processed for histopathology and immunocytochemistry with retinal cell specific markers. Results: The patient donor at age 6 yrs had nystagmus, <20/400 VA, hyperopia and small islands of vision by kinetic perimetry. The ERGs had only reduced cone function. By age 11, there was LP vision only. An affected younger sibling at age 6 had no nystagmus, 20/200 VA, less hyperopia and almost full kinetic fields (V-4e target); an ERG had reduced rod but substantial cone signals. The molecular cause for LCA in this family is under study. Although the donor had only LP at death, the retina contained numerous cones and rods in the macula and far periphery. The cones formed a monolayer and the rods were retained in clusters. Neither cones nor rods had outer segments. The inner nuclear layer had normal thickness but some ganglion cells had been lost. Conclusion: With LP vision only, this LCA donor retina retained significant numbers of cones and rods. These photoreceptor cells lacked outer segments, correlating with the patient donor's visual loss. These findings suggest that despite an advanced stage of vision loss in LCA, there may still be value of interventions such as gene therapy.
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