Fig. 2

Clinical synopsis. (a–c) Patient 4 at the age of 9 years. There is a marked spinal deformity with forward tilting of the pelvis (because of bilateral hip joint dislocation), exaggerated lumbar lordosis, and dorsal kyphosis with scoliosis. Features are identical to those of patient 5 (Fig. 2 in Liberfarb et al., 1986).¹⁷ (d) Ocular fundus examination of patient 1 at age 9 years showing optic disc pallor, generalized mottling of the retinal pigment epithelium (RPE) with areas of atrophy interspersed with pigmentary changes, and “bone spicules” identified in the macula and the midperiphery. Vascular caliber was reduced, with peripheral areas being avascular with remaining ghost vessels. (e) Fundus of patient 2 at age 6 years showing atrophy of the optic disc, extremely thin vessels, atrophic central macular area with pigment clumping. (f–k) Skeletal features including bilateral hip dislocation with femoral head dysplasia (patient 3, age 7 years), dislocation of ulna and radial head at the elbow (patient 5, age 15 years), severe epiphyseal dysplasia with striations of metaphyses (patient 3, age 7 years), delay in carpal and phalangeal ossification but no marked dysplasia (patient 3, age 2 years), platyspondyly but no spinal deformity at age 2 months, and extremely severe spinal deformity at adult age (patient 5).