Abstract：
Oculocutaneous albinism (OCA) could be either non-syndromic or syndromic. There are significant challenges in clinically recognizing and differentiating Hermansky-Pudlak syndrome (HPS) from non-syndromic OCA.
In a prospective consecutive case series, 63 patients (less than 18 years old) with a molecular genetic diagnosis of albinism (except OCA1A), Ocular albinism (OA) and Hermansky-Pudlak syndrome seen over a 3-year period were evaluated and analyzed. Hair colour, iris colour was graded, compared and correlated with the degree of fundus pigmentation and foveal development.
A total of 63 patients were evaluated. Forty-five patients had non-syndromic OCA (11 OCA1B, 24 OCA2, 9 OCA4, and 1 OCA6), 5 patients had OA and 13 patients had HPS. All 3 BLOC-related HPS categories were seen (1 with BLOC1, 7 with BLOC-2 and 5 with BLOC-3 related HPS). All patients with OA were hyperopic, had darker fundus pigmentation, but had poor foveal development. All HPS patients had lighter fundus pigmentation. The degree of fundus pigmentation correlated positively with the iris pigmentation and also with the foveal development only in OCA2.
Careful observation of the phenotype by comparison of the skin, hair, iris colour, with the degree of fundus pigmentation and foveal development may help clinically differentiate HPS from OCA patients of Chinese ethnicity even in the absence of any bleeding tendency.
In a prospective consecutive case series, 63 patients (less than 18 years old) with a molecular genetic diagnosis of albinism (except OCA1A), Ocular albinism (OA) and Hermansky-Pudlak syndrome seen over a 3-year period were evaluated and analyzed. Hair colour, iris colour was graded, compared and correlated with the degree of fundus pigmentation and foveal development.
A total of 63 patients were evaluated. Forty-five patients had non-syndromic OCA (11 OCA1B, 24 OCA2, 9 OCA4, and 1 OCA6), 5 patients had OA and 13 patients had HPS. All 3 BLOC-related HPS categories were seen (1 with BLOC1, 7 with BLOC-2 and 5 with BLOC-3 related HPS). All patients with OA were hyperopic, had darker fundus pigmentation, but had poor foveal development. All HPS patients had lighter fundus pigmentation. The degree of fundus pigmentation correlated positively with the iris pigmentation and also with the foveal development only in OCA2.
Careful observation of the phenotype by comparison of the skin, hair, iris colour, with the degree of fundus pigmentation and foveal development may help clinically differentiate HPS from OCA patients of Chinese ethnicity even in the absence of any bleeding tendency.
摘要：
眼皮肤白化病（OCA）可能是非综合征或综合征。在临床上识别和区分Hermansky-Pudlak综合征（HPS）与非综合征性OCA存在重大挑战。
在一个预期的连续病例系列中，63例（18岁以下）分子遗传学诊断为白化病（OCA1A除外），评估并分析了3年内出现的眼白化病（OA）和Hermansky-Pudlak综合征。头发颜色,虹膜颜色分级，与眼底色素沉着和中央凹发育程度进行比较和相关。
共评估了63例患者。45例患者患有非综合征性OCA（11例OCA1B，24OCA2、9OCA4和1OCA6)，5例患者有OA，13例患者有HPS。所有3个与BLOC相关的HPS类别均可见（1个与BLOC1，7个与BLOC-2和5个与BLOC-3相关的HPS）。所有OA患者均为远视,有较深的眼底色素沉着，但是中央凹发育不好。所有HPS患者眼底色素沉着较轻。仅在OCA2中，眼底色素沉着的程度与虹膜色素沉着呈正相关，也与中央凹发育呈正相关。
通过比较皮肤仔细观察表型，头发,虹膜颜色,眼底色素沉着和中央凹发育的程度可能有助于临床区分HPS和中国种族OCA患者，即使没有任何出血倾向。
在一个预期的连续病例系列中，
共评估了63例患者。
通过比较皮肤仔细观察表型，
