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Impressum
The multifocal electroretingram as a diagnostic tool in x-linked recessive cone-rod dystrophy
Freisberg L., Verhoeve J., Thliveris A., Ip M.
Department of Ophthalmology and Visual Sciences, University of Wisconsin, 600 Highland Avenue, Madison WI 53705, USA
Objective: X-linked recessive cone rod dystrophy is a rare hereditary
disorder. Only few affected families have been described. A problem in
counseling the families has been that many carriers are asymptomatic and
have normal or only minimal and non-descriptive changes on examination,
including full field electroretinogram (ERG). We describe the evaluation
of a family by multifocal ERG and how it aids in evaluating carrier status.
Methods: We examined family members of a family with x-linked recessive
cone rod dystrophy whose pedigree of affected members span five traceable
generations. We were able to examine affected and unaffected males as
well as unaffected and carrier females from three generations. All probands
had careful evaluation of their symptoms, underwent full clinical examination
including color examination, photography and full field as well as multifocal
ERG examination.
Results: All five affected males were symptomatic, exhibited decreased
best-corrected vision, various degrees of myopia, significant pathology
on full field ERG with severely depressed multifocal ERG. One male (74
y) showed golden tapetoretinal sheen and had a history of reduced but
stable vision (20/200-20/400) from the mid-forties on. Color examination
was abnormal on all affected males. The carrier female had completely
normal exam with normal acuities (20/20), normal color testing and normal
full field ERG. On multifocal ERG examination she showed a pattern of
patchy parafoveal depression.
Discussion: X-linked recessive cone rod dystrophy is a rare disease.
We demonstrate with this, newly described family, for the first time the
ability to clearly identify a female carrier with the help of the multifocal
ERG.