Mataftsi et al. (2007) reported a large consanguineous Algerian family in which seven individuals from three sibships were affected with Leber congenital amaurosis or early-onset retinal degeneration. Symptoms started at birth in two patients and during infancy in five patients, with age at diagnosis ranging from 3 years to 12 years of age. All patients had night blindness and nystagmus, but none had photophobia. Six patients had myopia, and one had mild hyperopia; visual acuity ranged from perception of light to 20/100. Visual fields were moderately to severely restricted in patients who were tested, and color vision was severely disturbed without a specific axis of confusion. The pupillary reflex was extremely sluggish in most of the patients. None presented signs of keratoconus. Funduscopic findings varied significantly across and within the sibships, primarily in an age-dependent manner: the youngest patient had no detectable maculopathy, three patients of intermediate age had an indistinct foveolar reflex, and the three oldest affected individuals had pronounced maculopathy. In addition, the optic disc appeared healthy in the younger patients, whereas moderate to waxy disc pallor was evident in the three oldest; the latter patients also displayed an annulus of peripapillary retinal pigment epithelium (RPE) atrophy in both eyes. Pigment retinopathy and retinal vessel attenuation were present in all but the youngest subject, with some patients having severely sclerosed arteries and multiple occluded or ghost vessels in the periphery. Fluorescein angiography confirmed the presence of peripapillary RPE atrophy and absence of macular edema. The proband was examined on two occasions eight months apart, and during that interval his visual acuity declined from 20/100 to 20/250 in the better eye. Full-field ERGs in the proband showed completely extinguished rod- and cone-driven responses, and macular optical coherence tomography scans showed an abnormal lamination due to the underlying degenerative disease. The nerve fiber layer and inner plexiform layer seemed to be preserved, but the structures of the outer retina were non-detectable, and retinal thickness was significantly reduced.

Li et al. (2009) studied 37 multigenerational consanguineous families from Saudi Arabia with Leber congenital amaurosis. Of the 417 individuals from these families, 117 were affected. All affected patients had early loss of vision, with variations in the clinical phenotypes. Five of these families were found to carry mutations in TULP1, indicating the presence of LCA15 in the patients from this families. Many of these patients with LCA15, although not all, showed a sandy granular RPE periphery phenotype. Within one of these five families, patients from one family showed a novel phenotype of retinal peripheral whitening and patchy dots at the posterior edge distantly resembling fundus albipunctatus. All patients from all five families carried the same novel mutation in the TULP1 gene.