Unilateral cryptophthalmia.
Two patients had the variable clinical features of unilateral cryptophthalmia. A 5-month-old boy had isolated unilateral cryptophthalmia: a small boney orbit, deformed optic canal, and a small amorphous mass with no normal intraocular tissue representing the globe. No extraocular muscles or optic nerve were identified by B-scan ultrasound or by computed axial tomography x-ray techniques. The second patient, a 13-year-old girl, had unilateral cryptophthalmia, and numerous systemic abnormalities including a head circumference less than the third percentile, severe mental retardation, hypoplasia of the left side of the head, and a left facial cleft deformity. She also had contractures of hips, knees and ankles, and bilateral spasticity and jerky movements. The left boney orbit was contracted and deformed and contained a small amorphous tissue with no ocular detail, as revealed by B-scan and computed tomography scan.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000209:etiology / Q000473:pathology*; D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D002877:Chromosomes, Human; D005124:Eye Abnormalities; D005147:Facial Bones / Q000002:abnormalities / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications; D008297:Male; D008334:Mandible / Q000002:abnormalities; D008437:Maxilla / Q000002:abnormalities; D009915:Orbit / Q000002:abnormalities / Q000000981:diagnostic imaging; D011859:Radiography