History of present illness
We present a 57-year-old woman with blurred central vision and mild impairment in night vision in both eyes. Her past ocular history is notable for bilateral cataract surgery and anterior chamber intraocular lenses at age 46. She denies metamorphopsia, scotomas, or constriction of peripheral visual field.
Ocular examination findings
Visual acuity was 20/25 in the right eye and 20/30 in the left eye. Intraocular pressures were normal. Retinal examination revealed coarse annular hyperpigmentation in the peripheral retina. No macular edema or atrophy was seen on clinical examination.
Imaging
Fundus photographs of the macula and periphery were obtained ( Fig. 9.1 ). Optical coherence tomography (OCT) was not obtained at initial visits, but at a follow-up 13 years later, central retinal pigment epithelial atrophy was noted, as well as development of perimacular drusen ( Fig. 9.2 ).
Questions to ask
- ■
Does the patient have a family history of ocular conditions or consanguinity? The mode of inheritance could help distinguish different forms of inherited vitreoretinopathy. Enhanced S-cone (Goldmann-Favre) syndrome is an autosomal recessive disorder. Retinitis pigmentosa (RP) can be autosomal dominant, autosomal recessive, or X-linked. Autosomal dominant vitreoretinochoroidopathy (ADVIRC) typically involves family members affected in consecutive generations.
- ■
No consanguinity
- ■
- ■
Does the patient have a nonsenile cataract or have a family history of nonsenile cataract? Premature development of cataract is seen in many inherited retinal conditions, including RP and conditions resulting from mutations in the BEST1 gene. ,
- ■
Yes. The patient had cataract extraction at age 46.
- ■
- ■
If patient is phakic, what is the refractive error? In patients with BEST1 -associated dystrophies, such as ADVIRC, there can be hypermetropia, nanophthalmos, microcornea, and associated angle closure glaucoma.
- ■
The patient is pseudophakic but does not have nanophthalmos, microcornea, or history of angle closure. Affected individuals in other ADVIRC pedigrees may demonstrate nanophthalmos and/or microcornea. ,
- ■
Assessment
This is a case of a 57-year-old woman with history of early presenile cataract and peripheral circumferential hyperpigmentation in the fundi.
Differential diagnosis
- ■
RP
- ■
Enhanced-S cone (Goldmann-Favre) syndrome
- ■
Microcornea, retinal dystrophy, cataract, and posterior staphyloma
- ■
Wagner vitreoretinal degeneration
- ■
ADVIRC
Working diagnosis
- ■
ADVIRC
Multimodal testing and results
- ■
Fundus photographs
- ■
Fundus photographs revealed a peripheral circumferential band of hyperpigmentation and atrophy beginning at the ora serrata and extending posteriorly to a well-defined boundary at the equator ( Fig. 9.1 ). This annular band of peripheral hyperpigmentation is highly characteristic of ADVIRC.
- ■
Punctate, white intraretinal or preretinal deposits are often present. Retinal arteriolar narrowing and neovascularization can be seen. In rare instances, vitreous hemorrhage can cause substantial vision loss. ,
- ■
- ■
Fluorescein angiogram
- ■
Fluorescein angiography was not performed on this patient. In ADVIRC, angiography can show petaloid leakage from cystoid macular edema, retinal vascular incompetence, peripheral retinal avascularity, and/or leakage from rare retinal neovascularization.
- ■
- ■
OCT
- ■
In this patient, retinal pigment epithelial atrophy was observed on ophthalmoscopy and OCT at age 70. Though not seen in this patient, macular edema has been described and can lead to significant visual impairment.
- ■
- ■
Electroretinogram (ERG)
- ■
The ERG revealed normal cone and rod function at age 46. Then, progressive decline in cone function occurred over the following decades. ERG findings in ADVIRC can range from normal to severely reduced cone and rod function. ,
- ■
- ■
Electrooculogram (EOG)
- ■
Though not performed in our patient, EOG is usually significantly subnormal in ADVIRC patients, , presumably related to a mutation in the BEST1 gene.
- ■
- ■
Goldmann automated perimetry
- ■
Though not performed in our patient, Goldmann perimetry is often normal early but may demonstrate mild constriction over time.
- ■
- ■
Genetic testing
- ■
Genetic testing can be quite helpful in confirming the diagnosis of BEST1 -related conditions, including ADVIRC.
- ■
ADVIRC is an autosomal dominant condition with causative missense mutations leading to altered splicing of the BEST1 gene. ,
- ■
Management
- ■
Observation was recommended in this patient because no macular edema or retinal neovascularization was present.
- ■
In patients with presenile cataract, cataract extraction may improve visual acuity and symptomatic glare.
- ■
Macular edema may be treated with subtenon’s and intravitreal or topical corticosteroids, as well as by nonsteroidal anti-inflammatory drugs and carbonic anhydrase medications. Retinal neovascularization can be treated with panretinal photocoagulation or vitrectomy for eyes complicated by severe vitreous hemorrhage.
Follow-up care
- ■
There are no established guidelines for follow-up, though patients may be followed annually in the absence of retinal neovascularization or macular edema.
- ■
If the patient is symptomatic or demonstrates progression on OCT or fundus examination, more frequent follow-up may be indicated.
Algorithm 9.1 : Algorithm for bilateral peripheral pigmentary changes
