Eye pain and blurred vision as main complaints in a new case with MDPL syndrome
| Autor: | Zhuping Xu, Zhiqing Lv, Xuelian Tian, Yi Zhang, Lin Zhou |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Male medicine.medical_specialty Eye pain 030209 endocrinology & metabolism Deafness 03 medical and health sciences 0302 clinical medicine Blurred vision medicine Eye Pain Humans Triglycerides Diabetic Retinopathy POLD1 business.industry General Medicine Diabetic retinopathy Syndrome medicine.disease Dermatology Hypoplasia Ophthalmology 030104 developmental biology Mutation (genetic algorithm) Female Lipodystrophy medicine.symptom business Hepatomegaly |
| Zdroj: | European journal of ophthalmology. 32(5) |
| ISSN: | 1724-6016 |
| Popis: | Introduction: We report a novel phenotype of mandibular hypoplasia, deafness, and progeroid features with lipodystrophy (MDPL) syndrome with POLD1 mutation in a Chinese girl. Case description: Diabetic retinopathy was detected as the primary manifestation in a Chinese girl with MDPL syndrome carrying a known POLD1 mutation (c.1812_1814delCTC, p.Ser605del). Typical characteristics of the syndrome including mandibular hypoplasia, deafness, progeroid features, and diabetes were detected after comprehensive examinations. The patient suffered from blurred vision and eye pain due to the neovascularization of the retina (vitreous hemorrhage and retinal detachment) and iris (neovascular glaucoma). The literature review revealed that the prevalence of hepatomegaly and abnormal triglyceride levels were significantly higher in female than in male with MDPL syndrome carrying POLD1 mutations. Conclusion: These results expand our knowledge regarding the clinical phenotypes of MDPL syndrome with POLD1 mutations. Diabetic retinopathy is a non-negligible complication of MDPL syndrome. The phenotype varies among female and male patients with the syndrome. Hepatomegaly and abnormal triglyceride levels are more common in female patients with MDPL syndrome. |
| Databáze: | OpenAIRE |
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