Accommodative esotropia and Brown syndrome in a girl with recessive geleophysic dysplasia.

Geleophysic dysplasia and Weill-Marchesani syndrome are acromelic dysplasias characterized by short stature, brachydactyly, and joint contractures. Recessive Weill-Marchesani syndrome typically includes spherophakia, but the ocular phenotype of recessive geleophysic dysplasia is not well defined. We describe the ocular phenotype of a girl with genetically confirmed recessive geleophysic dysplasia (biallelic ADAMTSL2 mutations). Features included high corneal astigmatism, accommodative esotropia, unilateral Brown syndrome, and no evidence for zonular disease at 12 years of age.

C677T methylene-H4-folate-reductase variant decreases binocular accommodation.

PURPOSE: The C677T polymorphism of methylene tetrahydrofolate reductase (MTHFR) lowers the activity of this enzyme, producing moderate elevation of blood levels of homocysteine (Hcy) and lowering the levels of 5-methyl-tetrahydro-folic acid (5-MeTHFA), methionine (Meth), and S-adenosylmethionine (SAM). In this study we examined 100 apparently normal subjects of both sexes (average age 25.6 +/- 4.25) for the genotypic presence of the T allele and its association with accommodative amplitude (AA). METHODS: The amplitude of accommodation was measured by the subjective "push-up" technique. DNA from buccal cells was genotyped for the C677T polymorphism of MTHFR by a PCR-restriction fragment length polymorphism genotyping assay. Descriptive statistics were obtained by frequency distribution and univariate analysis. Comparisons between monocular and binocular AA were obtained by t-test statistics or ANOVA. Associations between genotype and phenotype were analyzed using regression models. RESULTS: The C677T polymorphism was associated with decreased binocular AA (p = 0.0087). Monocular AA was not associated with the MTHFR genotype. CONCLUSIONS: Our results suggest a role for the C677T polymorphism in damaging the neural aspects of binocular vergence accommodation. The postulated neural damage could be due to the decreased formation of 5-MeTHFA and the defective synthesis of Meth, SAM and neurotransmitters or other methyl acceptors in nervous tissue of bearers of the C677T polymorphism. The differential effect upon monocular and binocular accommodation is hypothetically explained by a greater involvement of methylation reactions in vergence accommodation. A similar mechanism is proposed to explain the prevalent insufficient accommodation of Down's syndrome in which the blood levels of Meth and SAM are reduced.

Tocoferois do músculo dorsal e cavidade ocular do matrinxã (Brycon cephalus) proveniente da Bacia Amazônica em diferentes épocas sazonais / Tocopherol at the dorsal muscle and orbital cavity of the matrinxã fish (Brycon cephalus) from the Brazilian Amazonian Area captured in different seasons

Este trabalho teve como objetivo determinar o teor de tocoferois no músculo e cavidade ocular do matrinxã (Brycon cephalus), capturados na Amazônia Central - Brasil, no período da cheia e seca. A coleta dos peixes foi realizada em diferentes épocas sazonais, constituindo-se de três lotes com cinco exemplares. As análises seguiram a metodologia da AOCS Ce 8-89 (1996) em cromatógrafo HPLC PERKIN ELMER - Bomba isocrática LC 250 acoplado a detector de fluorescência (SHIMADZU - RF-10AxL). O a-tocoferol foi predominante nas diferentes sazonalidades. No músculo do peixe capturado na época da cheia e seca, o teor de tocoferois variou de 0,04 a 0,43mg 100g-1 e 0,06 a 8,23mg 100g-1, respectivamente. O teor de tocoferois na cavidade ocular, na época da cheia e seca, variou de 0,02 a 0,09mg 100g-1 e 0,03 a 0,42mg 100g-1, respectivamente.

Comparison of clinical characteristics of familial and sporadic acquired accommodative esotropia.

PURPOSE: To compare the clinical characteristics of patients with familial and nonfamilial acquired accommodative esotropia. METHODS: We recruited 48 patients from 33 families with acquired accommodative esotropia (an inward deviation of the eyes of 10 PD or more, a hypermetropia greater than or equal to +1.50 D, and an onset of esotropia at, or later than, 1 year of age). Our control group consisted of 20 patients with no known family history. Spherical error of refraction, stereoacuity, and need for strabismus surgery were determined and the 2 groups were compared. RESULTS: No statistically significant difference was found between the spherical equivalent error of refraction in familial cases (mean = +4.50 OD, +4.63 OS; range = +1.50 to +10.30 OD, +2.00 to +9.38 OS) versus those with nonfamilial disease (mean = +4.93 OD, +5.02 OS; range = +2.50 to +11.00 OD, +2.50 to +10.90 OS) (P =.47 OD; P =.47 OS). There also was no difference between the percentage of patients with familial disease who had some degree of stereoacuity (58%) and those without a family history (59%) (P > .99). Patients with familial acquired accommodative esotropia did not require more surgical interventions (26%) than those with nonfamilial acquired accommodative esotropia (30%) (P = .79). CONCLUSIONS: The general clinical characteristics of familial and nonfamilial acquired accommodative esotropia are very similar.

Prior topical anesthesia reduces time to full cycloplegia in Chinese.

PURPOSE: To investigate the effect of prior anesthesia on the time to full cycloplegia in young Chinese subjects. METHODS: The amplitude of accommodation was monitored over a 50-minute interval after the application of 1% cyclopentolate hydrochloride with a pretreatment of 0.4% benoxinate (oxybuprocaine) or 0.9% saline solution (control). Using a nonlinear mathematical model, the rate of accommodative loss (k) and the time required for 95% of total cycloplegia (T95%) were determined. RESULTS: Statistical analysis revealed a significantly faster rate of accommodative loss (P < .0001) after prior anesthesia (0.129 +/- 0.05) compared with the controls (0.103 +/- 0.04). T95% was noted at 26.43 +/- 10.22 minutes after prior anesthesia, which was significantly shorter (P < .0001) than that after the saline treatment (35.28 +/- 16.51 minutes). CONCLUSIONS: Prior application of topical anesthetic can shorten the time to full cycloplegia for people, such as the Chinese, with dark irides.