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Retinal Review, Issue 71

Authored by Danielle Strauss, M.D.

A 39-year-old woman was referred to the retina service of Omni for evaluation of white spots on her retina. The patient reported stable floaters in both eyes. She had never been told previously that she had any eye abnormalities. On exam visual acuity in both eyes was 20/20. The anterior segment exam was unremarkable. And IOP's OU were within normal limits. Upon questioning, she reported having some difficulty seeing in lowlight conditions.

Right Eye:

Left Eye:

Visual field testing of both eyes did not show any field constriction.

Right eye:

Left eye:

Special domain OCT of both eyes was unremarkable. However, funduscopic exam of the retina revealed the following:

As you can see in these wide-field Optos fundus photos, there are discrete uniform white dots throughout the fundus in both eyes, with greatest density in the mid-periphery. Fluorescein angiogram showed stippled hyperflourescence throughout the fundus and variable hyper and hypoflourescence in the macula.

The clinical appearance of the retina, is consistent with fundus albipunctatis. Fundus albipunctatis , is a rare and very distinct chorio-retinal dystrophy and is a form of Fleck retina disease. There are discrete small dots in the uniform pattern scattered throughout the fundus. This is a hereditary disorder which is passed in an autosomal recessive pattern. Most cases are caused by mutations in the RDH-5 gene which codes for 11 - cis retinol dehydrogenase. Symptoms may include nyctalopia, and rods and cones may both be effected by the disorder. The onset of symptoms is in childhood, and electroretinogram may show delay dark adaptation. Visual prognosis is generally good, with patients retaining 20/40 vision.

Another related retinal disorder called retinitis punctata albescens may appear similar to fundus albipuctatis with white flecks in the retina. However, retinitis punctata albescens can be progressive in nature. It is a form of retinitis pigmentosa w white flecks throughout the retina. Generally, in retinitis punctata albescens, the white flecks do not extend to the periphery as they do in fundus albipunctatis.

In this case the patient referred refused any further testing including ERG. There is no known treatment for fundus albipunctatis.

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