Diagnosis is firstly clinical through history and examination usually with a Slit-lamp. If characteristic features are found the investigations undertaken will depend on locally available equipment and may include Scanning laser ophthalmoscopy which highlights areas of autofluorescence which are associated with retinal pathology. Spectral-domain optical coherence tomography, electroretinography and microperimetry are also useful for diagnostic and prognostic purposes. Fluorescein angiography is used less often than in the past. These investigations may be followed by genetic testing in order to avoid misdiagnosis. Other diseases may have overlapping phenotypic features with<unk>  and the disease itself has multiple variants. In one study 35% of patients diagnosed with<unk>  through physical ophthalmic examination were found to be misdiagnosed when subsequent genetic testing was done. Genetic testing can be utilized to ensure an proper diagnosis for which the correct treatment can be applied.
Stargardt disease
Akureyri disease
Pickardt syndrome
Batten disease
Keshan disease
Lafora disease
Thiel–Behnke dystrophy
Bosch-Boonstra-Schaaf optic atrophy syndrome