Posterior Microphthalmia, Peripheral Pigmentary Retinal Changes, Yellow Lesions, and Cleft Lip: A Case Report and Literature Review
Purpose. Posterior microphthalmia is a sporadic or inherited developmental ocular anomaly that may occur isolated or in association with multiple ocular and systemic anomalies. This report documents a case of posterior microphthalmia with atypical presentation including white dots in the posterior p...
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| Format: | Article |
| Language: | English |
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Wiley
2019-01-01
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| Series: | Case Reports in Ophthalmological Medicine |
| Online Access: | http://dx.doi.org/10.1155/2019/8392329 |
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| author | Nasser G. Alsaedi Khalid Alrubaie |
| author_facet | Nasser G. Alsaedi Khalid Alrubaie |
| author_sort | Nasser G. Alsaedi |
| collection | DOAJ |
| description | Purpose. Posterior microphthalmia is a sporadic or inherited developmental ocular anomaly that may occur isolated or in association with multiple ocular and systemic anomalies. This report documents a case of posterior microphthalmia with atypical presentation including white dots in the posterior pole in addition to systemic anomalies including facial defect that can represent an underlying genetic mutation. Method. Case report. Results. A 29-year-old male with high hyperopia and history of bilateral clear lens presented with pigmentary changes and white-yellow dots in the posterior pole in both eyes. Patient had a history of cleft lip repair. A complete ocular evaluation including A/B scan and optical coherence tomography confirmed the diagnosis of posterior microphthalmia with a retinitis pigmentosa like fundus and drusen deposits in the subretinal pigment epithelium. Conclusion. The white-yellow drusenoid deposits in the posterior pole in association with posterior microphthalmia are poorly documented in the literature. Cases of craniofacial developmental defects in association with posterior microphthalmia may represent a genetic defect. |
| format | Article |
| id | doaj-art-f19dbbb3135644d48df5da63f0e799ff |
| institution | DOAJ |
| issn | 2090-6722 2090-6730 |
| language | English |
| publishDate | 2019-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Ophthalmological Medicine |
| spelling | doaj-art-f19dbbb3135644d48df5da63f0e799ff2025-08-20T03:20:44ZengWileyCase Reports in Ophthalmological Medicine2090-67222090-67302019-01-01201910.1155/2019/83923298392329Posterior Microphthalmia, Peripheral Pigmentary Retinal Changes, Yellow Lesions, and Cleft Lip: A Case Report and Literature ReviewNasser G. Alsaedi0Khalid Alrubaie1King Khaled Eye Specialist Hospital, Riyadh, Saudi ArabiaKing Khaled Eye Specialist Hospital, Riyadh, Saudi ArabiaPurpose. Posterior microphthalmia is a sporadic or inherited developmental ocular anomaly that may occur isolated or in association with multiple ocular and systemic anomalies. This report documents a case of posterior microphthalmia with atypical presentation including white dots in the posterior pole in addition to systemic anomalies including facial defect that can represent an underlying genetic mutation. Method. Case report. Results. A 29-year-old male with high hyperopia and history of bilateral clear lens presented with pigmentary changes and white-yellow dots in the posterior pole in both eyes. Patient had a history of cleft lip repair. A complete ocular evaluation including A/B scan and optical coherence tomography confirmed the diagnosis of posterior microphthalmia with a retinitis pigmentosa like fundus and drusen deposits in the subretinal pigment epithelium. Conclusion. The white-yellow drusenoid deposits in the posterior pole in association with posterior microphthalmia are poorly documented in the literature. Cases of craniofacial developmental defects in association with posterior microphthalmia may represent a genetic defect.http://dx.doi.org/10.1155/2019/8392329 |
| spellingShingle | Nasser G. Alsaedi Khalid Alrubaie Posterior Microphthalmia, Peripheral Pigmentary Retinal Changes, Yellow Lesions, and Cleft Lip: A Case Report and Literature Review Case Reports in Ophthalmological Medicine |
| title | Posterior Microphthalmia, Peripheral Pigmentary Retinal Changes, Yellow Lesions, and Cleft Lip: A Case Report and Literature Review |
| title_full | Posterior Microphthalmia, Peripheral Pigmentary Retinal Changes, Yellow Lesions, and Cleft Lip: A Case Report and Literature Review |
| title_fullStr | Posterior Microphthalmia, Peripheral Pigmentary Retinal Changes, Yellow Lesions, and Cleft Lip: A Case Report and Literature Review |
| title_full_unstemmed | Posterior Microphthalmia, Peripheral Pigmentary Retinal Changes, Yellow Lesions, and Cleft Lip: A Case Report and Literature Review |
| title_short | Posterior Microphthalmia, Peripheral Pigmentary Retinal Changes, Yellow Lesions, and Cleft Lip: A Case Report and Literature Review |
| title_sort | posterior microphthalmia peripheral pigmentary retinal changes yellow lesions and cleft lip a case report and literature review |
| url | http://dx.doi.org/10.1155/2019/8392329 |
| work_keys_str_mv | AT nassergalsaedi posteriormicrophthalmiaperipheralpigmentaryretinalchangesyellowlesionsandcleftlipacasereportandliteraturereview AT khalidalrubaie posteriormicrophthalmiaperipheralpigmentaryretinalchangesyellowlesionsandcleftlipacasereportandliteraturereview |