Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.
Department of Biostatistics, University of Iowa College of Public Health, Iowa City, Iowa, USA.
Am J Ophthalmol. 2019 Jun;202:55-61. doi: 10.1016/j.ajo.2019.02.017. Epub 2019 Feb 21.
Pigment dispersion syndrome (PDS) and pigmentary glaucoma (PG) are presumed to be inherited in an autosomal dominant manner. We examine relatives of patients with PDS and PG in order to determine the heritability of these diseases.
This was a prospective, cross-sectional study.
One hundred and one patients with PDS were prospectively recruited over 11 months. Four of the patients had PDS without ocular hypertension or glaucoma, 6 had PDS and ocular hypertension, and 91 had PG. Criteria for PDS were 2 of 3 signs: Krukenberg spindle, midperipheral iris transillumination defects, and/or heavy trabecular meshwork pigmentation. Criteria for PG were PDS and 2 of 3 signs: intraocular pressure >21 mm Hg, glaucomatous optic nerve damage, and/or glaucomatous visual field loss. Ninety-nine first-degree relatives living within a 100-mile radius of Iowa City, Iowa were examined in the clinic to determine the probability of familial transmission.
A total of 10 of 99 (10.10%) first-degree relatives were diagnosed with PDS (1 with PDS alone, 2 with PDS and ocular hypertension, and 7 with PG). Seven families with ≥2 affected members were identified. The majority of affected family members (8/10) showed moderate to heavy trabecular meshwork pigmentation and either Krukenberg spindle or transillumination defects.
Most of the cases of PDS in our study were sporadic, and the risk to first-degree relatives is lower than previously reported. However, there are families with apparent autosomal dominant inheritance of PDS in which the risk to relatives may be high.
色素播散综合征（PDS）和色素性青光眼（PG）被认为是常染色体显性遗传。我们检查了 PDS 和 PG 患者的亲属，以确定这些疾病的遗传性。
这是一项前瞻性、横断面研究。
在 11 个月的时间里，我们前瞻性地招募了 101 名 PDS 患者。其中 4 名患者患有 PDS 但无眼压升高或青光眼，6 名患者患有 PDS 合并眼压升高，91 名患者患有 PG。PDS 的诊断标准为 3 项标准中的 2 项：Krukenberg 纺锤体、周边虹膜透照缺陷和/或密集小梁网色素沉着。PG 的诊断标准为 PDS 合并 3 项标准中的 2 项：眼压>21mmHg、青光眼性视神经损伤和/或青光眼性视野缺损。在爱荷华州爱荷华市 100 英里半径范围内的 99 名一级亲属在诊所接受检查，以确定家族遗传的可能性。
共有 10 名（10.10%）一级亲属被诊断为 PDS（1 名单独患有 PDS，2 名患有 PDS 和眼压升高，7 名患有 PG）。确定了 7 个有≥2 名受影响成员的家族。大多数受影响的家族成员（8/10）表现为中度至重度小梁网色素沉着，并且存在 Krukenberg 纺锤体或透照缺陷。
我们研究中的大多数 PDS 病例是散发性的，一级亲属的风险低于先前报道。然而，有些家族存在明显的常染色体显性遗传 PDS，其亲属的风险可能很高。
