Goldmann-Favre Syndrome

Abstract

Goldmann-Favre syndrome, also known as recessive hyaloideoretinal dystrophy, is one of the inherited vitreoretinal degenerative disorders. Inherited by the autosomal recessive modes, it is the only vitreoretinal degeneration inherited in such a fashion; the other forms of vitreoretinal degeneration are autosomal dominant and in one case X-linked. Although the condition is not seen frequently, it shares many aspects with X-linked retinoschisis (another vitreoretinal degeneration). The sexes are affected equally. Goldmann-Favre syndrome patients complain of night blindness (usually during the first decade of life) and typically have significant myopia and progressive constriction of their visual fields. As with X-linked retinoschisis, there is both macular and peripheral schisis with pigmentary alterations (bone corpuscle type) and chorioretinal atrophy. The cystoid-appearing macula can take on a beaten-copper appearance. The vitreous undergoes liquefaction with the presence of fibrous strands of varying thickness. Preretinal membranes can also be seen.