Table 1 Clinical features in three patients from two families with Alström Syndrome
From: New pathogenic variants of ALMS1 gene in two Chinese families with Alström Syndrome
Family | Patient | Sex | Age | Refraction (OD) | Refraction (OS) | Ocular findings | BMI | Others |
|---|---|---|---|---|---|---|---|---|
Family1 | II:1 | F | 8 | + 7.50DS | + 8.00DS | Photophobia Nystagmus Total color blindness | 17.6 | Obesity NHL Acanthosis nigricans |
Family2 | II:1 | M | 6 | + 7.25DS/ + 1.75DC*75° | + 7.50DS/ + 1.25DC*85° | Photophobia Nystagmus Total color blindness | 22.7 | Obesity Abnormal lipid metabolism |
II:2 | M | 3 | + 4.75DS/ + 1.25DC*10 | 4.75DS/ + 1.25DC*65° | Photophobia Nystagmus Total color blindness | 21.9 | Obesity |