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 Table of Contents  
CASE REPORT
Year : 2014  |  Volume : 1  |  Issue : 3  |  Page : 203-205

Familial presentation-best vitelliform disease


Department of Ophthalmology, Chettinad Hospital and Research Institute, Chennai, Tamil Nadu, India

Date of Web Publication17-Aug-2014

Correspondence Address:
C Charanya
A 401 Urbanville Velachery Main Road, Velachery, Chennai - 600 042, Tamil Nadu
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2348-3334.138908

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  Abstract 

A 13-year-old boy presented to our ophthalmology outpatient department with gradual loss of vision in both eyes for past 6 months and the best-corrected visual acuity in right eye was 6/12 and left eye was 6/18. Anterior segment examination was within normal limits. Fundus examination showed right eye partially absorbed egg yolk like lesions in macula and left eye macula shows yellowish scrambled egg like lesions. Electro-oculogram showed reduced Arden's ratio. Patient was diagnosed to have best disease and as best disease is a bilateral macular dystrophy with autosomal-dominant inheritance it can occur in family members and therefore his parents and siblings were called for ocular examination and were found to have the best disease. So genetic counselling and screening of family members should be carried out or the disease can be missed out.

Keywords: Best disease, electooculogram, macular dystrophy


How to cite this article:
Charanya C, Raja A M, Siddharam J, Matheen A. Familial presentation-best vitelliform disease. CHRISMED J Health Res 2014;1:203-5

How to cite this URL:
Charanya C, Raja A M, Siddharam J, Matheen A. Familial presentation-best vitelliform disease. CHRISMED J Health Res [serial online] 2014 [cited 2019 Oct 21];1:203-5. Available from: http://www.cjhr.org/text.asp?2014/1/3/203/138908


  Introduction Top


Genetic related ophthalmic problems are common, but usually all family members do not come for ocular examination and many genetic diseases are missed out in family members. Still genetic counselling of family members is poor in our country. This case suggests the importance of genetic counselling and motivation of family members for examination.


  Case Report Top


A 13-year-old boy presented to ophthalmology outpatient department with complaints of painless, gradual loss of vision in both eyes for 6 months duration. Examination showed that his visual acuity in right eye was 6/12 and left eye was 6/18 not improving with pinhole and the color vision was normal. Anterior segment examination was within normal limits. Pupils were reacting to both direct and indirect light reflex. Fundus examination of both eyes showed that the media was clear, disc and vessels were normal. Right eye macula shows partially absorbed egg yolk like lesions [Figure 1] and left eye macula shows yellowish scrambled egg like lesions [Figure 2]. The above findings were confirmed with fundus fluorescein angiogram and optical coherence tomography was done [Figure 3] and [Figure 4]. Electro retinogram was normal. Electrooculogram (EOG), which is a diagnostic test for best disease was done for this patient and it showed reduced Arden's ratio [Figure 5]. With the above clinical findings and EOG findings the patient was diagnosed to have best disease-right eye Pseudohypopyon stage and left eye vitelliruptive stage. As best disease is autosomal dominant disease and can occur in family members, his parents and siblings were called for ocular examination [Figure 6]. Examination of his father was normal but mother and sister showed fundus appearance suggestive of best vitelliform disease with normal visual acuity [Figure 7], [Figure 8] and [Figure 9].
Figure 1: Right eye showing partially absorbed egg yolk-like lesions pseudohypopyon stage of best disease

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Figure 2: Left eye showing yellowish scrambled egg like lesions vitelliruptive stage

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Figure 3: Right eye oct showing lipofuscin accumulated in a cystic space underneath the retinal pigment epithelium

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Figure 4: Left eye oct showing lipofuscin accumulated in a cystic space underneath the retinal pigment epithelium

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Figure 5: Abnormal electrooculogram

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Figure 6: Pedigree chart of autosomal dominant inheritance affecting all the three children

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Figure 7: Sister left fundus with best disease

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Figure 8: Sister right eye with best disease

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Figure 9: Best disease in mothers' fundus

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  Discussion Top


Dr. Franz Best, a German ophthalmologist, described this type of fundus lesions in 1905. [1] Best disease, or vitelliform macular dystrophy, is a bilateral macular dystrophy with autosomal dominant inheritance characterized by the subretinal accumulation of yellowish egg yolk-like material in the macular area. [2] Mutation in VMD2 gene, which codes for a bestrophin, mapped to 11q13, have been associated with best disease. Dysfunction of bestrophin results in abnormal fluid and ion exchange by the retinal pigment epithelium (RPE) leading to PAS positive (periodic acid) lipofuscin pigments accumulated within the RPE cells and in the sub-RPE space, particularly in the foveal area, which causes atrophy of RPE and photoreceptors. [3] Visual acuity usually is normal in early stages and ophthalmoscopic findings precede visual impairment.

Stages of best disease

Stage 1: Previtelliform: Normal fundus, abnormal EOG

Stage 2: Vitelliform stage: Vision normal, characterized by egg yolk-like macular lesion consisting of lipofuscin within the RPE

Stage 3: Pseudohypopyon stage: It occurs when part of lesion gets absorbed

Stage 4: Vitelliruptive stage scrambled egg appearance due to the breakup of the uniform vitelliform lesion. Visual acuity deteriorates moderately. [4]

Electrooculogram (EOG) is the diagnostic test for evaluating best disease. Reduced Arden's ratio (light-peak/dark-trough) (normal ratio is 1.8) even in presence of normal ERG suggests best disease. [5] Visual loss occurs in best disease due to macular scarring, choroidal neovascular membrane and geographic atrophy. [6] There is no specific treatment for best disease. Genetic counselling for best disease family members is important. [4] In developing countries, like India, many families do not come for counselling and follow-up, as so many diseases are not found. Hence, in future steps should be taken to screen family members and educate them. Counselling should be given to patients with genetic diseases and their family members before they lose their vision.

 
  References Top

1.Malik TG, Ahmad A, Khalil M, Khan S, Shafique MM. Best vitelliform macular dystrophy with central retinal artery occlusion. Pak J Ophthalmol 2010;26:162-64.  Back to cited text no. 1
    
2.Krill AE, Morse PA, Potts AM, Klien BA. Hereditary vitelliruptive macular degeneration. Am J Ophthalmol 1968;61:1405-15.  Back to cited text no. 2
    
3.Hartzell HC, Qu Z, Yu K, Xiao Q, Chien LT. Molecular physiology of bestrophins: Multifunctional membrane proteins linked to best disease and other retinopathies. Physiol Rev 2008;88:639-72.  Back to cited text no. 3
    
4.Kanski JJ. Fundus Dystrophies. In: Clinical ophthalmology: A systematic approach. 6 th ed. Elsevier: Butterworth Heinemann; 2007. p. 672.  Back to cited text no. 4
    
5.Deutman AF. Electro-oculography in families with vitelliform dystrophy of the fovea. Detection of the carrier state. Arch Ophthalmol 1969;81:305-16.  Back to cited text no. 5
[PUBMED]    
6.Iannaccone A, Kerr NC, Kinnick TR, Calzada JI, Stone EM. Autosomal recessive Best vitelliform macular dystrophy: Report of a family and management of early-onset neovascular complications. Arch Ophthalmol 2011;129:211-7.  Back to cited text no. 6
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9]



 

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