Childhood glaucoma in association with congenital disorder of glycosylation caused by mutations in fucosyltransferase 8.

A rare form of congenital disorder of glycosylation (CDG) was recently discovered in individuals with biallelic mutations in fucosyltransferase 8 (FUT8). The clinical characteristics of patients with FUT8-CDG include intrauterine growth retardation, feeding difficulties, hypotonia, microcephaly, seizures, short stature, developmental delay, and respiratory abnormalities. We report the first case of glaucoma in an infant with FUT8-CGD and hypothesize a pathogenesis for glaucoma.

Periocular Asymmetry in Infants with Deformational Posterior Plagiocephaly.

PURPOSE: To analyze the clinical significance of the periorbital features associated with the facial asymmetry that is common in deformational posterior plagiocephaly (DPP). PATIENTS AND METHODS: We identified 32 patients with DPP, photographed their faces and tops of their head, and performed a complete eye examination. Four examiners analyzed the patient's periorbital features on the photographs. RESULTS: Median age was 6.5 months (range 3-12 months). Pseudoptosis was identified in 30 patients and pseudo-brow ptosis in 19. Pseudoptosis was marked in 17 patients. Five patients were misdiagnosed with congenital blepharoptosis and received regular follow-ups for amblyopia checks until the diagnosis of pseudoptosis was established. All patients had normal levator function and symmetric eyelid crease. One patient with pseudoptosis and physiologic anisocoria was diagnosed with pseudo-Horner syndrome after a negative 10% cocaine test. None of the patients developed meridional or occlusion amblyopia. CONCLUSION: DPP is the most frequent form of skull deformation in infants. Its main features are occipital flatness and facial asymmetry. Infants with DPP may present with pseudoptosis and pseudo-brow ptosis on the contralateral side of the occipital flatness. The pseudoptosis in DPP is non-amblyogenic, therefore, ophthalmologic intervention and regular follow-ups are not necessary unless other abnormalities co-exist.

Changes in refractive errors in albinism: a longitudinal study over the first decade of life.

PURPOSE: To analyze longitudinal changes in refraction in patients with albinism. METHODS: The medical records of 481 patients were reviewed retrospectively to identify patients who had cycloplegic refractions at three ages: visit A, 0-18 months old; visit B, 4-6 years old; visit C, 8-10 years old. We recorded refraction, type of albinism, glasses wear, and best-corrected visual acuity at visit C. Only right eyes were analyzed. RESULTS: A total of 75 patients were included. Of these, 73 wore glasses. Mean best-corrected visual acuity at visit C was 20/72 (range, 20/25-20/200). Mean spherical equivalent was 2.81 ± 2.4 D at visit A, 2.53 ± 3.4 D at visit B, and 2.15 ± 4.0 D at visit C. These values did not differ significantly from visits A to C (P = 0.0578). Mean astigmatism for the three time points was 1.60 ± 1.00 D, 2.50 ± 1.14 D, and 2.87 ± 1.45 D; these values did differ significantly from A to C (P < 0.0001). Subgroup analysis for OCA1A (16 eyes), OCA1B (20 eyes), and OCA2 (30 eyes) showed an increase in astigmatism from A to C, with a significant difference in means (P < 0.0001, P < 0.0001, and P = 0.0001, resp.). Worse best-corrected visual acuity and higher mean astigmatism at visit C were found for OCA1A (20/104 and +4.08 ± 1.34) compared to OCA1B (20/59 and +2.30 ± 1.36; P < 0.0001) and OCA2 (20/66 and +2.53 ±1.21; P < 0.0001). CONCLUSIONS: Children with albinism require periodic cycloplegic refraction, because astigmatism often increases within the first 10 years of life.