Revealing Underlying Conditions
17-year-old male presented for second opinion for cone dystrophy
Suspected clinical diagnosis: Diagnosed with bilateral optic atrophy and cone dystrophy
Presenting complaint: Reduced visual acuity and loss of colour vision
Medical history: Type 1 diabetes diagnosed at age 5, and polyuria
Family history: Negative
Eye exam and imaging
- Visual acuity: 20/25 OD and 20/30 OS
- Ishihara: 0/9 OD and 6/9 OS (decreased colour vision)
- Confrontational visual fields: concentric visual field restriction right > left
- Fundus exam: optic nerve pallor and atrophy, both eyes
- Retinal imaging: normal appearing OCT and fundus autofluorescence, both eyes
Additional information: Prior eye doctors obtained genetic testing
- Cone dystrophy panel: Negative
- OPA1 gene sequencing: Negative
Genetic test: WFS1 single gene testing
Genetic result: Positive for compound heterozygous pathogenic variants in the WFS1 gene (c.2254G>T; p.Gly695Val and c.2648_2651delTCTT)
Final diagnosis: Wolfram syndrome/DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), an autosomal recessive neurodegenerative disorder characterized by:
- Progressive neurological abnormalities
- Sensorineural hearing loss
- Psychiatric disturbance
- Other endocrine abnormalities (ie, diabetes insipidus)
- Urinary tract abnormalities and renal complications
Key Takeaways
What was thought to be an ocular condition turned out to be a systemic issue. Based on the final diagnosis, this patient’s medical management was significantly altered due to the risk of nonocular complications. It is important to consider systemic health history when diagnosing patients, as many eye conditions may be associated with a genetic syndrome.
OCT=optical coherence tomography; OD=oculus dexter (right eye); OS=oculus sinister (left eye).
This case study is based on a licensed genetic counsellor's in-office experience. It is based on a real patient with changes made for privacy considerations.
