Figure 1
Pedigree of a non-consanguineous family with X-linked retinitis pigmentosa (RP) and pathologic myopia (PM), retinal imaging, and novel frame-shift mutation identified in exon ORF15 of RPGR gene.
(A) Pedigree of the RP-PM family. Black squares (males) represent individuals affected by RP. Dotted circles (females) represent individuals affected by PM. Unaffected individuals are not shaded. Black lines indicate deceased individuals. Each generation is identified by a Roman numeral on the left (from I to IV), and each individual within the generation is identified by Arabic numerals next to the symbols. The arrow marks the proband. (B,C) Color fundus photographs of the posterior pole of the proband III:3 bilaterally show the typical aspect of RP, characterized by optic disc pallor, attenuated retinal vessels, macular dystrophy, and degenerative changes of the retinal pigment epithelium with an irregular visualization of the peri-papillary choroidal vasculature. (D,E) Spectral-domain optical coherence tomographies of the macula of the proband III:3 document the degenerative changes of retinal layers in both eyes, revealing the structural damages of both inner segment ellipsoid band and photoreceptor outer segment. (F,G) Color fundus photographs of the posterior pole of the obligate carrier II:2 bilaterally exhibit the features of severe PM, characterized by titling of the optic disc with an extensive peri-papillary atrophic crescent, straightened and stretched retinal vessels, patchy chorioretinal areas of macular atrophy and dystrophy, and diffuse degenerative changes of the retinal pigment epithelium with a marked visualization of the choroidal vasculature. (H,I) Spectral-domain optical coherence tomographies of the obligate carrier II:2 confirm the phenotypic signs of PM-related macular degeneration in both eyes, typically evidencing a myopic staphylomatous configuration of the posterior pole. (J–L) Representative sequence chromatograms of the hemizygous male proband III-3, heterozygous obligate female carrier II-2, and unaffected proband’s maternal male cousin III-4 are illustrated.
