<i>Weill-Marchesani syndrome</i> associated with retinitis pigmentosa
Retinitis pigmentosa (RP) is associated with a wide variety of ocular and systemic disorders. The Weill-Marchesani syndrome is a multi-system disorder with microspherophakia as one of the common manifestations. A 14-year-old girl presented with short stature, short and stubby fingers, hypodontia and...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2007-01-01
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| Series: | Indian Journal of Ophthalmology |
| Subjects: | |
| Online Access: | http://www.ijo.in/article.asp?issn=0301-4738;year=2007;volume=55;issue=2;spage=142;epage=143;aulast=Jethani |
| _version_ | 1818457481649586176 |
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| author | Jethani Jitendra Mishra Anurag Shetty Shashikant Vijayalakshmi P |
| author_facet | Jethani Jitendra Mishra Anurag Shetty Shashikant Vijayalakshmi P |
| author_sort | Jethani Jitendra |
| collection | DOAJ |
| description | Retinitis pigmentosa (RP) is associated with a wide variety of ocular and systemic disorders. The Weill-Marchesani syndrome is a multi-system disorder with microspherophakia as one of the common manifestations. A 14-year-old girl presented with short stature, short and stubby fingers, hypodontia and low-set ears. Slit-lamp examination revealed microspherophakia, with shallow anterior chambers with irido and phacodonesis. Ultrasonographic biomicroscopy confirmed the clinical findings and revealed hypoplastic ciliary body. Electroretinogram confirmed the diagnosis of RP. Though RP has been associated with ectopia lentis in earlier reports, this is, to the best of our knowledge, the first case report describing the association of RP and Weill-Marchesani syndrome. |
| first_indexed | 2024-12-14T22:43:15Z |
| format | Article |
| id | doaj.art-bca356d8bab841ccafd7c7ec556610d8 |
| institution | Directory Open Access Journal |
| issn | 0301-4738 |
| language | English |
| last_indexed | 2024-12-14T22:43:15Z |
| publishDate | 2007-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Indian Journal of Ophthalmology |
| spelling | doaj.art-bca356d8bab841ccafd7c7ec556610d82022-12-21T22:44:55ZengWolters Kluwer Medknow PublicationsIndian Journal of Ophthalmology0301-47382007-01-01552142143<i>Weill-Marchesani syndrome</i> associated with retinitis pigmentosaJethani JitendraMishra AnuragShetty ShashikantVijayalakshmi PRetinitis pigmentosa (RP) is associated with a wide variety of ocular and systemic disorders. The Weill-Marchesani syndrome is a multi-system disorder with microspherophakia as one of the common manifestations. A 14-year-old girl presented with short stature, short and stubby fingers, hypodontia and low-set ears. Slit-lamp examination revealed microspherophakia, with shallow anterior chambers with irido and phacodonesis. Ultrasonographic biomicroscopy confirmed the clinical findings and revealed hypoplastic ciliary body. Electroretinogram confirmed the diagnosis of RP. Though RP has been associated with ectopia lentis in earlier reports, this is, to the best of our knowledge, the first case report describing the association of RP and Weill-Marchesani syndrome.http://www.ijo.in/article.asp?issn=0301-4738;year=2007;volume=55;issue=2;spage=142;epage=143;aulast=JethaniEctopia lentisretinitis pigmentosaWeill-Marchesani |
| spellingShingle | Jethani Jitendra Mishra Anurag Shetty Shashikant Vijayalakshmi P <i>Weill-Marchesani syndrome</i> associated with retinitis pigmentosa Indian Journal of Ophthalmology Ectopia lentis retinitis pigmentosa Weill-Marchesani |
| title | <i>Weill-Marchesani syndrome</i> associated with retinitis pigmentosa |
| title_full | <i>Weill-Marchesani syndrome</i> associated with retinitis pigmentosa |
| title_fullStr | <i>Weill-Marchesani syndrome</i> associated with retinitis pigmentosa |
| title_full_unstemmed | <i>Weill-Marchesani syndrome</i> associated with retinitis pigmentosa |
| title_short | <i>Weill-Marchesani syndrome</i> associated with retinitis pigmentosa |
| title_sort | i weill marchesani syndrome i associated with retinitis pigmentosa |
| topic | Ectopia lentis retinitis pigmentosa Weill-Marchesani |
| url | http://www.ijo.in/article.asp?issn=0301-4738;year=2007;volume=55;issue=2;spage=142;epage=143;aulast=Jethani |
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