The Masquerade Interface of Retinal Dystrophy with Intermediate Uveitis
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Yes
Purpose
To characterize a series of patients with inherited retinal dystrophies (IRD) masquerading as intermediate uveitis (IU).
Methods
Retrospective chart review of clinical/laboratorial data, multimodal imaging and genetic testing.
Results
From June 2022 to May 2024, four patients were identified with a history of “refractory IU”, associated with vitreous cells and CME. Age ranged from 10-43 years and 3 were men. Visual acuity at presentation ranged from 20/30 to 20/400. All had macular edema on OCT, as well as peripheral retinal microvascular leakage, but in the absence of macular leakage. Fundus autofluorescence revealed zonal hiper/hipofluorescence pattern suggestive of IRD. Prior therapies had included oral/subtenon/intravitreal steroids, antimetobolites and anti-TNF agents. One patient had developed cortisonic glaucoma. Next-generation sequencing (NGS) panel for IRD identified pathogenic variants in all four patients, two in NR2E3 gene and two in CRB1 gene.
Conclusion
IRD with NR2E3 / CRB1 mutations may masquerade as bilateral IU, particularly in young patients, with mild/indolent pseudoinflammatory changes. Lack of macular leakage on fluorescein angiography and fundus autofluorescence changes consistent with IRD may help suspicion, which is typically confirmed with genetic testing. Early diagnosis of IRD may avoid inappropriate treatment, with potential side effects.
Conflict of interest
No
1
Last name
CENACHI
Initials of first name(s)
S
Department
Faculdade de Medicina da Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, Brazil
City
Belo Horizonte
Country
Brazil
2
Last name
Frasson
Initials of first name(s)
M
Department
Hospital São Geraldo/HC da Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, Brazil
City
Belo Horizonte
Country
Brazil
3
Last name
Marco
Initials of first name(s)
LA
Department
Faculdade de Medicina da Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, Brazil
City
Belo Horizonte
Country
Brazil
4
Last name
Nehemy
Initials of first name(s)
M
Department
Faculdade de Medicina da Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, Brazil
City
Belo Horizonte
Country
Brazil
5
Last name
Vasconcelos-Santos
Initials of first name(s)
DV
Department
Faculdade de Medicina da Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, Brazil
City
Belo Horizonte
Country
Brazil
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