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| LETTER TO EDITOR |
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| Year : 2020 | Volume
: 2
| Issue : 1 | Page : 24 |
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Ectopia lentis differential diagnosis
Jamir Pitton Rissardo, Ana Letícia Fornari Caprara
Medicine Department, Federal University of Santa Maria, Santa Maria, Brazil
| Date of Submission | 03-Jul-2020 |
| Date of Acceptance | 03-Jul-2020 |
| Date of Web Publication | 19-Aug-2020 |
Correspondence Address:
Dr. Jamir Pitton Rissardo
Rua Roraima, Santa Maria, Rio Grande do Sul
Brazil
 Source of Support: None, Conflict of Interest: None
DOI: 10.4103/PAJO.PAJO_32_20
How to cite this article:
Rissardo JP, Fornari Caprara AL. Ectopia lentis differential diagnosis. Pan Am J Ophthalmol 2020;2:24 |
Dear Editor,
We read the article entitled “Weil–Marchesani Syndrome: A Case Report and Literature Review” on the esteemed “The Pan-American Journal of Ophthalmology” with great interest. Lopez et al. reported a case of a young adult female presenting with short stature and brachydactyly associated with joint stiffness. Furthermore, she was diagnosed and treated for closed-angle glaucoma by 1 year. Based on these features, a clinical diagnosis of Weil–Marchesani syndrome (WMS) was done.[1]
Ectopia lentis is a displacement of the eye's crystalline lens from its normal location. This dislocation can be partial (subluxation) or complete (luxation). A narrow group of diseases is commonly associated with this finding. To be more specific, there are three systemic conditions that ectopia lentis can occur in about 60%–90% of the individuals affected by these disorders: WMS, Marfan syndrome (MFS), and homocystinuria caused by cystathionine beta-synthase deficiency (HCU).[1],[2] The identification of this manifestation in presupposed genetic syndromes or systemic diseases is very important because can prompt the diagnosis and influence the affected individual in minimizing the expression of the disease.
WMS, MFS, and HCU have ectopia lentis as a common finding, but they could be differed due to their other characteristics [Table 1].[3],[4],[5] In the MFS, the most frequently stretch results in the lens shifting upward and outward.[6] On the other hand, WMS and HCU have ectopia lentis toward the lower nasal quadrant, which in severe cases can be dislocated into the anterior chamber.[1] Moreover, MFS and HCU share marfanoid habitus features such as stature and finger abnormalities. However, the joints in the MFS are hypermobile and in the HCU and WMS are rigid.[5]
The diagnostic criteria of WMS have not yet been formally established. In this way, we have in the literature many diagnostic models. One of the most acceptable was published in the GeneReviews, in which the clinical findings are searched to achieve a clinical diagnosis of WMS. These features include eye anomalies such as microspherophakia and ectopia lentis, short stature, brachydactyly, joint stiffness, and occasionally heart defects. It is worthy of mentioning that WMS and MFS are connective tissue disorders. Moreover, it is believed that WMS is related to mutations in ADAMTS10 and fibrillin-1.[3]
HCU is characterized by developmental delay, ectopia lentis, severe myopia, excessive height, long limbs, scoliosis, pectus excavatum, and thromboembolism. The remarkably increased concentrations of plasma total homocysteine and methionine may help to diagnose. Furthermore, the detection of biallelic pathogenic variants in cystathionine β-synthase can support. The treatment is to correct the biochemical abnormality with pyridoxine therapy (if shown to be B6 responsive), a methionine-restricted diet, and folate and Vitamin B12 supplementation.[5]
MFS is a connective tissue disorder with a high degree of clinical variability. The diagnosis can be established FBN1 pathogenic variant with aortic root enlargement or ectopia lentis. The clinical diagnosis can be achieved by aortic root enlargement and ectopia lentis or the calculation of the systemic score ≥ 7. The systemic score includes wrist and thumb sign, wrist or thumb sign, pectus carinatum deformity, pectus excavatum or chest asymmetry, hind foot deformity, plain flat foot (pes planus), pneumothorax, dural ectasia, protrusion acetabulum, reduced upper segment/lower segment and increased arm span/height ratios, scoliosis or thoracolumbar kyphosis; reduced elbow extension, 3 of 5 facial features, skin striae, myopia, and mitral valve prolapse.[4]
We would like to provide the mnemonic “MOVED ECTOPIA LENTIS” to help general practitioners remember the causes of ectopia lentis [Table 2].[1],[2],[3],[4],[5],[6],[7] | Table 2: The mnemonic “MOVED ECTOPIA LENTIS” to help general practitioners remember the causes of ectopia lentis
Click here to view |
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
| References | |  |
| 1. | Lopez CE, González GF, García GD. Weil-Marchesani syndrome: A case report and literature review. Pan Am J Ophthalmol 2020;2:10.  [Full text] |
| 2. | Gupta NK, Ayra AV, Azad R. Ectopia lentis et pupillae. Indian J Ophthalmol 1989;37:32-4. [ PUBMED] [Full text] |
| 3. | Tsilou E, MacDonald IM. Weill-Marchesani syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, et al., editors. GeneReviews ®. Seattle (WA): University of Washington, Seattle, 1993-2020; 2007. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1114/. [Last updated on 2013 Feb 14]. |
| 4. | Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al, editors. GeneReviews®. Seattle (WA): University of Washington, Seattle, 1993-2020; 2001. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1335/. [Last updated on 2017 Oct 12]. |
| 5. | Sacharow SJ, Picker JD, Levy HL. Homocystinuria caused by cystathionine beta-synthase deficiency. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al, editors. GeneReviews®. Seattle (WA): University of Washington, Seattle, 1993-2020; 2004. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1524/. [Last updated on 2017 May 18]. |
| 6. | Waduthantri S. Ocular manifestations of Marfan's syndrome. Med J DY Patil Univ 2017;10:118-9. [Full text] |
| 7. | Colley A, Lloyd IC, Ridgway A, Donnai D. Ectopia lentis et pupillae: The genetic aspects and differential diagnosis. J Med Genet 1991;28:791-4. |
[Table 1], [Table 2]
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