{
  "abstract": "A paediatric patient presented with progressive bilateral visual loss. Best-corrected visual acuity was 6/36 in the right eye and 6/18 in the left. Intraocular pressures were normal, and anterior segments and confrontational fields were unremarkable. Fundoscopy revealed bilateral cystoid macular oedema (CMO) with no peripheral retinal dystrophy. Initial management with topical dorzolamide 2% three times daily for three months yielded no improvement. Fluorescein angiography showed no macular leakage, but extended widefield imaging demonstrated mild peripheral leakage and areas of nonperfusion, raising suspicion of retinal vasculopathy as macular telangiectasia type 2. Mild anterior vitreous cells were observed, without snowbanking. Pattern and full-field electroretinography excluded enhanced S-cone and Goldmann-Favre syndromes. A working diagnosis of intermediate uveitis was made, and a trial of oral prednisolone (50mg daily) led to rapid resolution of oedema. However, the CMO recurred on tapering, prompting the addition of azathioprine as a steroid-sparing agent. Genetic testing confirmed a compound heterozygous mutation in CRB1, establishing a diagnosis of CRB1-associated maculopathy. This case is clinically significant for its atypical phenotype: isolated CMO without pigmentary retinal changes, lack of response to carbonic anhydrase inhibitors, and steroid-sensitive oedema requiring immunosuppression. It posed a significant diagnostic challenge due to overlapping features with uveitis and retinal vasculitis, requiring a multidisciplinary approach involving imaging, electrophysiology, and molecular genetics. This case illustrates a distinctive and multifaceted phenotype of CRB1-associated disease that, to our knowledge, remains underreported in the literature. Hence, highlighting the importance of broad differential diagnosis and personalised treatment strategies in atypical cases of CMO.",
  "authors": [
    {
      "affiliations": [
        "University Hospital of UK"
      ],
      "name": "Mustafa Al-Ghazi"
    },
    {
      "affiliations": [
        "University Hospital of UK"
      ],
      "name": "Maha Al-Sarraji"
    }
  ],
  "title": "130221 When uveitis isn’t: CRB1-associated maculopathy masquerading as inflammation in a paediatric patient",
  "uid": "e826f77f-4307-5a11-baa7-f3da6162fe57"
}