Objectives: To quantify chromatic dysfunction in Best disease to reassess the classic categorization of macular chromatic damage and to investigate psychophysical and clinical correlations. Methods: Color-contrast dis...Objectives: To quantify chromatic dysfunction in Best disease to reassess the classic categorization of macular chromatic damage and to investigate psychophysical and clinical correlations. Methods: Color-contrast discrimination was measured using 2 different psychophysical strategies in age-matched control (n=41) and patient (n=34) eyes. The first strategy measured performance along 3 main confusion lines (testing cone function), and the second evaluated discrimination ellipses (modified Cambridge Color Test). The main outcome measures were chromatic discrimination variables (confusion line length, ellipse length, angle, and axis ratio) and visual acuity (VA). Results: Significant loss of performance was seen in all color axes in our patients, and it increased monotonically with staging, becoming significant in Fishman stages 2 and 3. The classically assumed preferential type I red-green deficit was true only for stage 4. Substantial chromatic dysfunction occurred even with relatively preserved VA despite that negative correlations between all test variables and VA reached statistical significance. Partial correlation analysis showed that protan/deutan loss was related to VA independent of tritan loss. Statistically significant positive correlations were also found between lesion size and chromatic dysfunction. Conclusions: Chromatic discrimination is often impaired in Best disease, even when VA is still spared. Our quantitative psychophysical approach shows that the classic categorization as a type I red green deficit is valid only for disease stage 4.展开更多
Background: Hypotrichosis with juvenile macular dystrophy (HJMD) is a rare autosomal recessive disorder characterized by sparse and short scalp hair from birth, followed within a few years by progressive macular degen...Background: Hypotrichosis with juvenile macular dystrophy (HJMD) is a rare autosomal recessive disorder characterized by sparse and short scalp hair from birth, followed within a few years by progressive macular degeneration leading to blindness. HJMD was shown to result from mutations in CDH3 encoding P- cadherin. Objectives: In the present study, we attempted to identify the molecular basis of abnormal hair growth in two siblings of Arab Muslim origin with hypotrichosis but no visual symptoms. Methods: Mutation analysis was performed using direct sequencing and polymerase chain reaction- restriction fragment length polymorphism analysis. Results: Patients displayed sparse and short hair since birth. Significant macular degenerative pigmentary changes were noticed in the face of normal visual acuity. Despite the fact that a single CDH3 mutation had previously been described in several families of Israeli Arab Muslim origin, the two affected patients were found to be homozygous carriers of a novel nonsense mutation (Y61 SX) predicted to result in premature termination of P- cadherin translation. Conclusions: The present results indicate that all patients with congenital hypotrichosis should undergo thorough fundus examination, which, when revealing pigmentary macular changes, can be considered as indicative of an underlying CDH3 causative mutation.展开更多
文摘Objectives: To quantify chromatic dysfunction in Best disease to reassess the classic categorization of macular chromatic damage and to investigate psychophysical and clinical correlations. Methods: Color-contrast discrimination was measured using 2 different psychophysical strategies in age-matched control (n=41) and patient (n=34) eyes. The first strategy measured performance along 3 main confusion lines (testing cone function), and the second evaluated discrimination ellipses (modified Cambridge Color Test). The main outcome measures were chromatic discrimination variables (confusion line length, ellipse length, angle, and axis ratio) and visual acuity (VA). Results: Significant loss of performance was seen in all color axes in our patients, and it increased monotonically with staging, becoming significant in Fishman stages 2 and 3. The classically assumed preferential type I red-green deficit was true only for stage 4. Substantial chromatic dysfunction occurred even with relatively preserved VA despite that negative correlations between all test variables and VA reached statistical significance. Partial correlation analysis showed that protan/deutan loss was related to VA independent of tritan loss. Statistically significant positive correlations were also found between lesion size and chromatic dysfunction. Conclusions: Chromatic discrimination is often impaired in Best disease, even when VA is still spared. Our quantitative psychophysical approach shows that the classic categorization as a type I red green deficit is valid only for disease stage 4.
文摘Background: Hypotrichosis with juvenile macular dystrophy (HJMD) is a rare autosomal recessive disorder characterized by sparse and short scalp hair from birth, followed within a few years by progressive macular degeneration leading to blindness. HJMD was shown to result from mutations in CDH3 encoding P- cadherin. Objectives: In the present study, we attempted to identify the molecular basis of abnormal hair growth in two siblings of Arab Muslim origin with hypotrichosis but no visual symptoms. Methods: Mutation analysis was performed using direct sequencing and polymerase chain reaction- restriction fragment length polymorphism analysis. Results: Patients displayed sparse and short hair since birth. Significant macular degenerative pigmentary changes were noticed in the face of normal visual acuity. Despite the fact that a single CDH3 mutation had previously been described in several families of Israeli Arab Muslim origin, the two affected patients were found to be homozygous carriers of a novel nonsense mutation (Y61 SX) predicted to result in premature termination of P- cadherin translation. Conclusions: The present results indicate that all patients with congenital hypotrichosis should undergo thorough fundus examination, which, when revealing pigmentary macular changes, can be considered as indicative of an underlying CDH3 causative mutation.
