Successful amblyopia therapy initiated after age 7 years: compliance cures.

OBJECTIVE: To report successful therapy for anisometropic and strabismic amblyopia initiated after age 7 years. METHODS: A consecutive series of 36 compliant children older than 7 years (range, 7.0 to 10.3 years; mean, 8.2 years) at initiation of amblyopia therapy for anisometropic (19 patients; mean age, 8.3 years), strabismic (9 patients; mean age, 8.0 years), or anisometropic and strabismic (8 patients; mean age, 8.0 years) amblyopia was studied. Initial (worst) visual acuities were between 20/50 and 20/400 (log geometric mean, -0.83 [antilog, 20/134] for all patients; -0.88 [antilog, 20/151] for anisometropic patients; -0.70 [antilog, 20/100] for strabismic patients; and -0.88 [antilog, 20/151] for anisometropic and strabismic patients). Initial (worst) binocularity was absent or reduced in all cases. Therapy consisted of (1) full-time standard occlusion (21 patients; mean age, 8.0 years), (2) total penalization (7 patients; mean age, 7.8 years), or (3) full-time occlusive contact lenses (8 patients; mean age, 8.8 years). RESULTS: Final (best) visual acuities were between 20/20 and 20/30 for all 36 patients. Final (best) binocularity was maintained or improved for 22 (61%) of 36 patients, including 16 anisometropic patients (84%), 2 strabismic patients (22%), and 4 anisometropic and strabismic patients (50%). CONCLUSION: Given compliance, therapy for anisometropic and strabismic amblyopia can be successful even if initiated after age 7 years. Arch Ophthalmol. 2000;118:1535-1541

[Partial lecithin-cholesterol acyltransferase (LCAT) deficiency syndrome]. / Síndrome de deficiencia parcial de lecitina-colesterol aciltransferasa (LCAT).

This syndrome is a pathological entity of low incidence which mainly affects high density lipoprotein (HDL) metabolism. We here show the first case reported in our country, observed in a 63-year-old woman who showed bilateral corneal opacity and eruptive xanthomas in both arms. The lipoprotein profile disclosed severe hypertriglyceridemia and normocholesterolemia, although the percentage of cholesteryl esters was low. Plasma levels of HDL-cholesterol and HDL major apolipoproteins, A-I and A-II, were markedly decreased. The patient also showed glucose intolerance and hematological alterations related to abnormal lipid composition of erythrocyte membranes. As evaluated by the exogen substrate method, LCAT activity proved to be 82% lower in the patient than in a control subject. It is noteworthy that the patient had experienced cardiac events and presented hypertension, neither of which has been commonly documented in partial LCAT deficiency syndromes.

Síndrome de deficiencia parcial de lecitina-colesterol aciltransferasa (LCAT). / [Partial lecithin-cholesterol acyltransferase (LCAT) deficiency syndrome]

This syndrome is a pathological entity of low incidence which mainly affects high density lipoprotein (HDL) metabolism. We here show the first case reported in our country, observed in a 63-year-old woman who showed bilateral corneal opacity and eruptive xanthomas in both arms. The lipoprotein profile disclosed severe hypertriglyceridemia and normocholesterolemia, although the percentage of cholesteryl esters was low. Plasma levels of HDL-cholesterol and HDL major apolipoproteins, A-I and A-II, were markedly decreased. The patient also showed glucose intolerance and hematological alterations related to abnormal lipid composition of erythrocyte membranes. As evaluated by the exogen substrate method, LCAT activity proved to be 82

lower in the patient than in a control subject. It is noteworthy that the patient had experienced cardiac events and presented hypertension, neither of which has been commonly documented in partial LCAT deficiency syndromes.

Peripheral retinopathy in offspring of carriers of Norrie disease gene mutations. Possible transplacental effect of abnormal Norrin.

BACKGROUND: The Norrie disease (ND) gene (Xp11.3) (McKusick 310600) consists of one untranslated exon and two exons partially translated as the Norrie disease protein (Norrin). Norrin has sequence homology and computer-predicted tertiary structure of a growth factor containing a cystine knot motif, which affects endothelial cell migration and proliferation. Norrie disease (congenital retinal detachment), X-linked primary retinal dysplasia (congenital retinal fold), and X-linked exudative vitreoretinopathy (congenital macular ectopia) are allelic disorders. METHODS: Blood was drawn for genetic studies from members of two families to test for ND gene mutations. Sixteen unaffected family members were examined ophthalmologically. If any retinal abnormality were identified, fundus photography and fluorescein angiography was performed. RESULTS: Family A had ND (R109stp), and family B had X-linked exudative vitreoretinopathy (R121L). The retinas of 11 offspring of carrier females were examined: three of seven carrier females, three of three otherwise healthy females, and one of one otherwise healthy male had peripheral inner retinal vascular abnormalities. The retinas of five offspring of affected males were examined: none of three carrier females and none of two otherwise healthy males had this peripheral retinal finding. CONCLUSIONS: Peripheral inner retinal vascular abnormalities similar to regressed retinopathy of prematurity were identified in seven offspring of carriers of ND gene mutations in two families. These ophthalmologic findings, especially in four genetically healthy offspring, strongly support the hypothesis that abnormal Norrin may have an adverse transplacental (environmental) effect on normal inner retinal vasculogenesis.