A CASE OF X-LINKED JUVENILE RETINOSCHISIS: DIAGNOSIS AND PLAN - WHERE DO WE GO FROM HERE?

Title A CASE OF X-LINKED JUVENILE RETINOSCHISIS: DIAGNOSIS AND PLAN - WHERE DO WE GO FROM HERE?
Author, Co-Author Sandra Block, Leonard Messner, Daisy Chan, William Hillman
Topic
Year
1999
Day
Saturday
Program Number
Poster 1
Room
Hall 4C
Affiliation
Illinois College of Optometry
Abstract An 11-year-old African-American male was referred to the Illinois Eye Institute with decreased acuity, macular exudate, and strabismus. Presenting complaints included sitting close to board, holding things close, and diplopia. Visual acuities were: OD 20/25- and OS 20/80-. Constant left exotropia was found with nystagmus. Color vision testing revealed normal function OD and only the demonstration plate OS. Refractive error testing showed compound hyperopic astigmatism. Eye health evaluation revealed macular radial striations with cystoid thickening, vitreal membranes, speculated RPE OD and cystoid degeneration with retinoschisis, pigment epithelial changes, and macular atrophic lesion OS. Visual field testing revealed a superior nasal defect OD with generalized depression OU (low patient reliability). Dark-adapted ERG testing showed a normal a-wave but selective reduction in the b-wave amplitude. These findings confirmed the diagnosis of X-linked juvenile retinoschisis. Consultation involved explaining the diagnosis and addressing current and future needs. The parents, who are separated, were unprepared for implications of the disease. The plan is to follow the patient closely, monitoring visual function changes. The mother reported that the patient is experiencing field loss difficulties. Visual rehabilitative needs, applicable to the patient's activities, include mobility and academic modifications. His mother appeared to be ready to move forward, applying for disability, while the father was reluctant to consider long-term implications. It will be important to be proactive being prepared for the vision loss and its impact. Attempts to address genetic counseling, educational consequences, orientation and mobility, psychosocial issues, and vocational considerations are being made. We need to move beyond the diagnosis to help families deal with the eye disease and its affect on other aspects of life.
Affiliation of Co-Authors Illinois College of Optometry, Illinois College of Optometry
Outline