| Phenotype details |
cone-rod dystrophy with amelogenesis imperfecta; 6y, legally blind (visual acuity 10/200 both eyes); very intense photoaversion that caused difficulties in moving in daylight; in dim light, she could move easily and was able to read; seeing only saturated colors; 9y - special school for sight-disabled children; adolescence - lost her central vision; 16y: night blindness, difficulties in moving in dim light; 20y: severely handicapped; teeth: abnormal enamel from early childhood, rapidly lost her milk teeth, severe alteration of the enamel on her adult teeth; 24y, very significant erosion of all teeth with absence of enamel, resulting in a dark yellow color, hypersensitivity, and teeth cavities - all teeth were devitalized and capped with ceramic prostheses. 38y: vision limited to light perception both eyes; refraction was obtained only in left eye: 1.25 (15deg; 1.50); bilateral subcapsular posterior cataract; intraocular pressure: normal at 18 mm Hg on both eyes; fundus: a bilateral macular atrophy and typical bone spicule-shaped pigment deposits in the midperiphery of the retina, retinal vasculature highly attenuated, optic discs pale; no detectable visual field at Goldmann perimetry; electroretinogram: no response; neurological and cognitive examination: normal |
