X-LINKED HEMOPHILIA AND FOVEAL RETINOSCHISIS - COINCIDENCE OR CONSANGUINE?

Title X-LINKED HEMOPHILIA AND FOVEAL RETINOSCHISIS - COINCIDENCE OR CONSANGUINE?
Author, Co-Author Lori Ann Kehler, Anita Agarwal
Topic
Year
2012
Day
Program Number
125193
Room
Exhibit Hall E
Affiliation
Vanderbilt Eye Institute
Abstract BACKGROUND: X-linked bilateral foveal retinoschisis is a common cause of juvenile maculopathy in males. It often presents in early childhood as a student demonstrates difficulty in school. Vision loss associated with bilateral foveal schisis is varied and can be asymmetric. Clinical diagnosis of foveal schisis is challenging, as the associated stellate schisis folds are difficult to detect on exam. Modern imaging techniques like optical coherence tomography (OCT) can allow visualization of the schisis cavities and prompt a diagnosis that may not otherwise have been made. The gene responsible for foveal retinoschisis has been identified as XLRS1 on chromosome Xp22. Factor IX deficiency (hemophilia B) is also an X-liked condition and, to our knowledge, has not previously been reported in patients with bilateral foveal retinoschisis.

CASE REPORT(S): An 11 year-old boy presented to the Vanderbilt Eye Institute for longstanding, bilateral vision loss. His medical history is significant for hemophilia B, and several of his family members also have hemophilia (i.e. brother, maternal grandfather, cousin.) He had been previously seen by several community-based eye care providers and at an academic institution in a neighboring state. He reports having several pairs of glasses in the past without improvement in vision. He is accompanied by his mother who reports that he is having difficulty seeing in school. Uncorrected Snellen visual acuity is 20/60+4 OD, 20/60 OS. Salient clinical findings include mild hyperopia OU, trace pallor of the optic disc temporally OU, and dull foveal reflex OU. Spectralis OCT revealed bilateral foveal retinoschisis.

CONCLUSIONS: The gene locus for factor IX is Xq27.1-q27.2, which is not adjacent to the locus associated with the foveal retinoschisis gene. This unique case of a boy with both conditions warrants further genetic studies and further study of the hemophilia-affected family members. Clinicians should rule out foveal retinoschisis in males with bilateral vision loss, especially before suspecting malingering or bilateral refractive amblyopia.
Affiliation of Co-Authors Vanderbilt Eye Institute
Outline