Bilateral staphylomas in a patient with Hermansky-Pudlak syndrome.
Bilateral staphylomas in a patient with Hermansky-Pudlak syndrome.
复制标题
赫曼斯基-普德拉克综合征患者的双侧葡萄肿。
DOI：
10.1097/00006982-200501000-00019
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发表时间：
2005
期刊：
影响因子：
--
通讯作者：
Gahl,WilliamA
中科院分区：
文献类型：
--
作者：
Tang,Johnny;Tsilou,Ekaterini;Caruso,RafaelC;Rubin,Benjamin;Gahl,WilliamA
A 38-year-old man of Puerto Rican ancestry who had Hermansky–Pudlak syndrome (HPS) was found to have bilateral iris transillumination (Fig. 1) and very hypopigmented fundi along with staphylomas bilaterally (Figs. 2 and 3). The patient also had a fine jerk nystagmus. His visual acuity was 20/500 in the right eye and 20/320 in the left eye (ETDRS chart). The patient’s objective refraction was 8.00 4.00 82 in the right eye and 10.25 3.50 86 in the left eye without improvement on manifest. B scan ultrasonography demonstrated a change in curvature of the profile of the macular area that was bilaterally consistent with the diagnosis of staphylomas. The axial length was 26 mm in the right eye and 27 mm in the left. Visual evoked potentials were consistent with an excessive proportion of decussating chiasmal fibers. HPS is a rare autosomal recessive disorder that most commonly occurs in individuals of Puerto Rican descent. 1 Patients may have a triad of oculocutaneous albinism, platelet dysfunction associated with a lack of dense bodies in platelets demonstrated by electron microscopy, and storage of ceroid-like material in tissues. Manifestations of the storage disease include restrictive lung disease, ulcerative colitis, kidney failure, and cardiomyopathy. 2 HPS has significant genetic heterogeneity; seven different genes (HPS-1 to HPS-7) have been described so far, but a 16-base pair duplication in the HPS-1 gene, as in our case, is the most common defect seen in patients of Puerto Rican descent. 2, 3 The HPS-1 gene codes for a protein whose role remains speculative but seems to be important in protein trafficking. Patients with the HPS-1 gene mutation seem to have the most severe phenotype to date. 1 Ophthalmologically, patients with HPS typically have visual acuities ranging from 20/60 to 20/400, nystagmus, iris transillumination, foveal hypoplasia, and an albinotic retinal midperiphery. Staphyloma development in this patient may be secondary to the high myopia that was also present.
