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American Journal of Public Health Research
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The Implementation of a Tele-Homecare System with Service Oriented Architecture and HL7 Message Transmission Standard
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The Influence of Ethanol on Pyruvate Kinases Activity in Vivo, in Vitro, in Silico
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Clinical and Histological Features in Wegener Granulomatosis
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American Journal of Infectious Diseases and Microbiology
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The Curse of Lymphatic Filariasis: Would the Continual Use of Diethylcarbamazine Eliminate this Scourge in Papua New Guinea?
Anne Lanham, Lillian Mwanri

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Isolated Dislocation of Ocular Lens

Gabriela Acucella, Enrico Finale*, Gaetano Auletta, Andrea Guala

Department of Obstetrics and Gynecology, Castelli Hospital, Verbania, Italy

Abstract: We describe a case of a child whit isolated dislocated of ocular lens, due to mutation in FBN1 gene. Differential syndromic diagnosis is made and we discuss to importance of clinical follow-up to exclude/confirm cardiologic complications due to Marfan syndrome.

Keywords: Ectopia lentis, Fibrillin 1 gene, Marfan syndrome

Citation: Gabriela Acucella, Enrico Finale, Gaetano Auletta, Andrea Guala, Isolated Dislocation of Ocular Lens. American Journal of Medical Case Reports, 4 (3). 97-100. January 2016. doi:10.12691/ajmcr-4-3-7

1. Case Report

We describe the case of a child 3 years old came to our attenction for a dislocated higher bilateral lens that was diagnosed during an eye screening. The initial medical history was negative for, major malformations, hereditary diseases and early onset mental delay, cancer recurring and for parents consanguinity. The child is an only child born to vaginal birth and she never showed pathologies. The examination highlights a height to 90th percentile while the weight and the head circumference are to 50th. The child has not dysmorphics except the very arched palate and valgus knee.

2. Differential Diagnosis

The presence of lens dislocation diagnosis oriented the team to research new signs and symptoms related to the main syndromes associated with lens disclocation, such as: Marfan syndrome, Weill-Marchesani syndrome, Ehler-Danlos sindrom and homocystinuria. The clinical examination had ruled out the Weill-Marchesani and Ehler-Danlos sundromes because were not present in the child, short stature, brachydactyly, microspherophakia (Weill-Marchesani), and not even also laxity and thinness of the skin, ligament hyperlaxity (Ehler-Danlos). A cardiologist advise and an echocardiogram allowed us to exlude the mitral valv prolapse and/or aortic arch dilatation. We counseled to do an hands radiograhy to study the metacarpophalangeal profile and homocysteinemia dosage, results were normal. We excluded the Marfan syndrome since were not present Ghent criterions.

The most likely hypothesis seemed to be the isolated congenital dislocation og the lens (Table 1 differential diagnosis) was necessary to do a molecolar investigation to establish if was a lectopia lentis 1 (OMIM 129600), dominant autosomal condition due to the mutation of the gene FBN1 or ectopia lentis 2 (OMIM 225100), recessive autosomal condition due to the mutation of the gene ADAMTSL4. The diagnosis has been made thanks to the molecolar investigation of the fibrillin gene 1 (sequencing FBN1). The used methodology was the DNA extraction from peripheral blood and amplification of the 65 exons of the gene FBN1 through PCR, analysis on DHPLC, Direct automatic sequence and sequence analysis with software "sequencer 3.0". The analysi of the 65 coding regions and relatives flanking regions inclusive of the canonical sites of "splicing" of the gene FBN1 showed the presence of exon 1 of a missense mutation in Heterozygosity.

3. Discussion

The ectopia lentis is a hereditary disorder of the connective tissue with predominating of 1/100.000, in most cases it is transmitted like an autosomal dominant trait although there are rare cases with recessive autosomal [1,2] and not rare new mutations. The ectopia lentis refers a dislocation of lents from his normal position; in this condition the zonular filaments and the suspensory ligaments are alongated or discontinuous. Very often ectopia lentis is a manifestation of systemic diseases and in particular is associated to Marfan syndrome [3]. The ectopia lentis rappresents one of the major criteria for the diagnosis of Marfan syndrome although the ectopia lentis is present only in 60% of cases of suffering people [4].

The Marfan syndrom is a disorder of the connective tissue with autosomal dominant inheritance and its incidence is about 2 cases per 10.000 individuals [5], with a prevalence of 2-3 cases out of 10.000 [5,6,7], without different incidence about sex, race, or geographical distribution. The disorder is caused by mutations of the gene FBN1, the protein constitutes the microfibrils of elastic fibers.

Table 1. Differential diagnosis (adapted from The Marfan Foundation)

The main features of the Marfan syndrome involving the cardiovascular, skeletal, and visual systems; can be involved also cutaneous system, respiratory and nervous [8]. The Marfan syndrome diagnosis is posed according to the Ghent criteria, which included different manifestations, including in particular: lens dislocation, art proximal aneurysm and an exessive growth of long bones [9]. According to Ghent criteria (Table 2) for the clinical dyagnosis of the Marfan syndrome required a major criteria in two organs/systems and the involvement of a third organ/system. In familial cases are sufficient the presence of major criteria in one organ/system and the involvement of a second organ/system. In adults the diagnosis of Marfan syndrome, in the context of the classical multisystem involvement, is relatively simple. In children can be problematic to have the diagnosis because many manifestations are age-dependent [10]. While the ectopia lentis is a relatively moderate impairment where an early diagnosis and a careful oculistic follow-up can avoid the blindness risk. The morbidity and mortality of Marfan Syndrome are mainly related to cardiovascular manifestations like dissections/aortic aneurysms and arrhythmias which can cause sudden death in young people.

Table 2. Ghent nosology 2010

After the revision of Ghent Criteria in 2010 [11], many patients who previously received a diagnosis of an isolated ectopia lentis, they were reclassified and they received a diagnosis of Marfan syndrome with important implications of clinical and instrumental follow-up [12].

4. Conclusions

The primary objective in patients with a diagnosis of ectopia lentis 1 is to excluded in time the reclassification of disease in Marfan syndrome. The international guidelines recommend the use of a validated systematic score that is based on the familia response of the disease, ascending aortic ectasia and of the lens luxation, which offers to the other clinical characteristics a different score according to their specificity for the syndrome [11].

The follow-up will have to identify early the presence of the aortic bulb dilation by an echocardiography with the application of international nomograms and calculating the ratio area bulb/height; identification and evaluetion of mitral valve disease and a possible degree of valvular insufficiensy associated; evaluetion of the lens position and the possible degree of myopia; identification of a possible family history (certainty relative affected or carrier of mutation already identified); systemic score calculation (Table 3) considering that a score ≥7 gives the diagnosis of Marfan syndrome.

Table 3. Systematic score (adapted from The Marfan Foundation)

References

[1]   | Marfan Syndrome – GeneReviews®; http://www.ncbi.nlm.nih.gov/books/NBK1335/
[2]   | Fu Q, Liu P, Lu Q, Wang F, Wang H, Shen W, Xu F, Liu L, Sergeev YV, Sui R. Novel mutation in FBN1 causes ectopia lentis and varicose great saphenous vein in one Chinese autosomal dominant family. Mol Vis 20; 812-21,2014.
[3]   | Liang C, Fan W, Wu S, Liu Y. Identification of a novel FBN1 mutation in a Chinese family with isolated ectopia lentis. Mol Vis 17:3481-5,2011.
[4]   | Pepe G, Lapini I, Evangelisti L, Attanasio M, Giusti B, Lucarini L, Fattori R, Pellicanò G, Scrivanti M, Porciani MC, Abbate R, Gensini GF. Is ectopia lentis in some cases mild phenotypic expression of Marfan syndrome? Need for a long-term follow-up. Mol Vis 13:2242-7,2007.
[5]   | Genetics Home Reference; http://www.ghr.nlm.nih.gov/.
[6]   | Orphanet Report Series – Prevalence of rare diseases: Bibliographic data , May 2012, Number 1.
[7]   | Sangiovanni A., Delfino A., Maccarone M., Antoniazzi E., Arbustivi E., Bianchi P. E. Bollettino della della Società Medico Chirurgica di Pavia 125(3):513. 23.

[8]  
Faivre L, Masurel-Paulet A, Collod-Béroud G, Callewaert BL, Child AH, Stheneur C, Binquet C, Gautier E, Chevallier B, Huet F, Loeys BL, Arbustini E, Mayer K,Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Grasso M, Halliday DJ, Béroud C, Bonithon-Kopp C, Claustres M, Robinson PN, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G. Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations. Pediatrics 123:391-8, 2009.

[9]   | Laffargue F, Lienhardt-Roussie A, Lacombe D, Delrue MA. Clinical signs of Marfan syndrome in children under 10 years of age. Arch Pediatr 20:1193-200, 2013.
[10]   | Stheneur C, Tubach F, Jouneaux M, Roy C, Benoist G, Chevallier B, Boileau C, Jondeau G. Study of phenotype evolution during childhood in Marfan syndrome to improve clinical recognition. Genet Med 16:246-50, 2014.
[11]   | Loeys, B.L., Dietz, H.C., Braverman, A.C., et al. The revised Ghent nosology for the Marfan syndrome. Journal of Medical Genetics. 47, 77: 476-485. 2010.
[12]   | Chandra A, Patel D, Aragon-Martin JA, Pinard A, Collod-Béroud G, Comeglio P, Boileau C, Faivre L, Charteris D, Child AH, Arrno G. The Revised Ghent Nosology; Reclassifying Isolated Ectopia Lentis. Clin Genet 87: 284-7, 2015.