Leber’s Congenital Amaurosis and its Complications – A Very Rare Presentation
Leber’s congenital amaurosis is one of the most severe forms of retinal dystrophies responsible for congenital blindness. It accounts for 10%–18% of congenital blindness cases. It is characterized by at least three findings: severe and early visual impairment, sluggish or near-absent pupillary respo...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2024-01-01
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| Series: | Delhi Journal of Ophthalmology |
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| Online Access: | https://journals.lww.com/10.4103/DLJO.DLJO_99_23 |
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| author | Sujit Das Sakshi Singh Aastha Agarwal Ram Monohar Misra |
| author_facet | Sujit Das Sakshi Singh Aastha Agarwal Ram Monohar Misra |
| author_sort | Sujit Das |
| collection | DOAJ |
| description | Leber’s congenital amaurosis is one of the most severe forms of retinal dystrophies responsible for congenital blindness. It accounts for 10%–18% of congenital blindness cases. It is characterized by at least three findings: severe and early visual impairment, sluggish or near-absent pupillary responses, and severely subnormal or nondetectable electroretinogram. Some patients exhibit solely retinal blindness and show evidence of multisystemic involvement. Here, in this article, we are presenting a case of complicated Leber’s congenital amaurosis with cataract and primary hyperplastic primary vitreous along with neurodevelopmental delay. |
| format | Article |
| id | doaj-art-be10b072b5824e9c9a3ee6e12c0dbcd3 |
| institution | DOAJ |
| issn | 0972-0200 2454-2784 |
| language | English |
| publishDate | 2024-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Delhi Journal of Ophthalmology |
| spelling | doaj-art-be10b072b5824e9c9a3ee6e12c0dbcd32025-08-20T03:11:09ZengWolters Kluwer Medknow PublicationsDelhi Journal of Ophthalmology0972-02002454-27842024-01-01341616310.4103/DLJO.DLJO_99_23Leber’s Congenital Amaurosis and its Complications – A Very Rare PresentationSujit DasSakshi SinghAastha AgarwalRam Monohar MisraLeber’s congenital amaurosis is one of the most severe forms of retinal dystrophies responsible for congenital blindness. It accounts for 10%–18% of congenital blindness cases. It is characterized by at least three findings: severe and early visual impairment, sluggish or near-absent pupillary responses, and severely subnormal or nondetectable electroretinogram. Some patients exhibit solely retinal blindness and show evidence of multisystemic involvement. Here, in this article, we are presenting a case of complicated Leber’s congenital amaurosis with cataract and primary hyperplastic primary vitreous along with neurodevelopmental delay.https://journals.lww.com/10.4103/DLJO.DLJO_99_23congenital blindnessleber’s congenital amaurosisretinal dystrophy |
| spellingShingle | Sujit Das Sakshi Singh Aastha Agarwal Ram Monohar Misra Leber’s Congenital Amaurosis and its Complications – A Very Rare Presentation Delhi Journal of Ophthalmology congenital blindness leber’s congenital amaurosis retinal dystrophy |
| title | Leber’s Congenital Amaurosis and its Complications – A Very Rare Presentation |
| title_full | Leber’s Congenital Amaurosis and its Complications – A Very Rare Presentation |
| title_fullStr | Leber’s Congenital Amaurosis and its Complications – A Very Rare Presentation |
| title_full_unstemmed | Leber’s Congenital Amaurosis and its Complications – A Very Rare Presentation |
| title_short | Leber’s Congenital Amaurosis and its Complications – A Very Rare Presentation |
| title_sort | leber s congenital amaurosis and its complications a very rare presentation |
| topic | congenital blindness leber’s congenital amaurosis retinal dystrophy |
| url | https://journals.lww.com/10.4103/DLJO.DLJO_99_23 |
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