September 2007
Case 5 - Peripheral Pigmentary Retinopathy
Elias I. Traboulsi
Cole Eye Institute
Cleveland Clinic
Case Report
21 y.o.
Blurry vision - Discovered to have pigmentary changes on retinal examination (Figures 1 and 2)
No history of prematurity
Mother has 20/200 vision in one eye from chronic CME
VOU=20/30
Mild hypermetropia
Pupils: Normal
A/S: Normal
Fundus: see Figure 1
Figure: Montage of Right fundus photographs shows clear delineation between areas of normal and abnormal retina with heavy pigmentation in periphery. There are vitreal condensations along the inferonasal vessels.
Tests - ERG: Modestly reduced amplitude with normal implicit times
Diagnosis - ADVIRC - Autosomal Dominant Vitreo-Retino-Choroidopathy
Comment
The diagnosis of ADVIRC is generally based on:
1. Family history
2. Absence of systemic findings
3. Characteristic peripheral pigmentation with posterior clear-cut border with normal appearing retina
4. Variably reduced amplitudes, normal implicit times
5. Variably reduced Arden ratio
6. Very slowly progressive with good visual prognosis
Cataracts and ME are main causes for loss of vision
References:
Blair NP, Goldberg MF, Fishman GA, Salzano T.Autosomal dominant vitreoretinochoroidopathy (ADVIRC).
Br J Ophthalmol. 1984 Jan;68(1):2-9.
Yardley J, Leroy BP, Hart-Holden N, et al. Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant
vitreoretinochoroidopathy (ADVIRC). Invest Ophthalmol Vis Sci. 2004 Oct;45(10):3683-9.
Traboulsi EI, Payne JW. Autosomal dominant vitreoretinochoroidopathy. Report of the third family.
Arch Ophthalmol. 1993 Feb;111(2):194-6.
Elias I. Traboulsi
Cole Eye Institute
Cleveland Clinic
Case Report
21 y.o.
Blurry vision - Discovered to have pigmentary changes on retinal examination (Figures 1 and 2)
No history of prematurity
Mother has 20/200 vision in one eye from chronic CME
VOU=20/30
Mild hypermetropia
Pupils: Normal
A/S: Normal
Fundus: see Figure 1
Figure: Montage of Right fundus photographs shows clear delineation between areas of normal and abnormal retina with heavy pigmentation in periphery. There are vitreal condensations along the inferonasal vessels.
Tests - ERG: Modestly reduced amplitude with normal implicit times
Diagnosis - ADVIRC - Autosomal Dominant Vitreo-Retino-Choroidopathy
Comment
The diagnosis of ADVIRC is generally based on:
1. Family history
2. Absence of systemic findings
3. Characteristic peripheral pigmentation with posterior clear-cut border with normal appearing retina
4. Variably reduced amplitudes, normal implicit times
5. Variably reduced Arden ratio
6. Very slowly progressive with good visual prognosis
Cataracts and ME are main causes for loss of vision
References:
Blair NP, Goldberg MF, Fishman GA, Salzano T.Autosomal dominant vitreoretinochoroidopathy (ADVIRC).
Br J Ophthalmol. 1984 Jan;68(1):2-9.
Yardley J, Leroy BP, Hart-Holden N, et al. Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant
vitreoretinochoroidopathy (ADVIRC). Invest Ophthalmol Vis Sci. 2004 Oct;45(10):3683-9.
Traboulsi EI, Payne JW. Autosomal dominant vitreoretinochoroidopathy. Report of the third family.
Arch Ophthalmol. 1993 Feb;111(2):194-6.
