Diagnostic Criteria in Ophthalmology: Marfan, VKH, NF1, NMOSD and More
Last updated: October 2026
Diagnostic criteria and screening rules that ophthalmologists use, updated to the current versions. Older versions are noted where exam questions may still use them.
Marfan syndrome: revised Ghent nosology (2010)
| Setting | Criteria for diagnosis |
|---|---|
| No family history | 1. Aortic root Z ≥ 2 + ectopia lentis |
| 2. Aortic root Z ≥ 2 + causal FBN1 mutation | |
| 3. Aortic root Z ≥ 2 + systemic score ≥ 7 | |
| 4. Ectopia lentis + FBN1 mutation known to cause aortic disease | |
| Family history of Marfan | 5. Ectopia lentis |
| 6. Systemic score ≥ 7 | |
| 7. Aortic root Z ≥ 2 (age 20 or over) or ≥ 3 (under 20) |
Rules 3, 6 and 7 apply only if Shprintzen–Goldberg, Loeys–Dietz and vascular Ehlers–Danlos syndromes have been excluded.
| Systemic feature | Points |
|---|---|
| Wrist AND thumb sign | 3 |
| Wrist OR thumb sign | 1 |
| Pectus carinatum | 2 |
| Pectus excavatum or chest asymmetry | 1 |
| Hindfoot deformity | 2 |
| Plain flat foot | 1 |
| Pneumothorax | 2 |
| Dural ectasia | 2 |
| Protrusio acetabuli | 2 |
| Reduced upper/lower segment ratio and increased arm span/height | 1 |
| Scoliosis or thoracolumbar kyphosis | 1 |
| Reduced elbow extension | 1 |
| 3 of 5 facial features | 1 |
| Skin striae | 1 |
| Myopia over 3 D | 1 |
| Mitral valve prolapse | 1 |
More: Lens hub
Vogt–Koyanagi–Harada disease
| Category (Revised Diagnostic Criteria, 2001) | Required |
|---|---|
| Complete VKH | Criteria 1–5 |
| Incomplete VKH | Criteria 1–3 plus either 4 or 5 |
| Probable VKH (eye only) | Criteria 1–3 |
| Criterion 1 | No history of penetrating trauma or eye surgery |
| Criterion 2 | No other eye disease |
| Criterion 3 | Bilateral uveitis: early (diffuse choroiditis, serous detachments) or late (sunset glow, Dalen–Fuchs-like nodules) |
| Criterion 4 | Neurological or auditory signs (meningism, tinnitus, CSF pleocytosis) |
| Criterion 5 | Skin signs after the eye or CNS disease (alopecia, poliosis, vitiligo) |
The SUN Working Group classification criteria (2021) split VKH into early-stage and late-stage disease and are used in research.
More: VKH
Neurofibromatosis type 1 (revised 2021)
Two or more of the following (or one, if a parent has NF1):
| Feature | Detail |
|---|---|
| Café-au-lait macules | 6 or more: over 5 mm before puberty, over 15 mm after |
| Freckling | Axillary or inguinal (bilateral if only pigmentary signs) |
| Neurofibromas | 2 or more of any type, or 1 plexiform |
| Optic pathway glioma | Usually found on MRI or by visual loss |
| Iris or choroidal signs | 2 or more Lisch nodules on slit lamp, or 2 or more choroidal abnormalities on OCT or near-infrared imaging |
| Distinctive bone lesion | Sphenoid dysplasia, anterolateral tibial bowing or long-bone pseudarthrosis |
| Genetic test | Heterozygous pathogenic NF1 variant |
Thyroid eye disease (Bartley and Gorman, 1995)
Eyelid retraction with objective thyroid dysfunction or one other sign (exophthalmos, optic neuropathy or extraocular muscle involvement); or, without lid retraction, thyroid dysfunction plus one of those signs. Other causes must be excluded.
Neuromyelitis optica spectrum disorder (IPND 2015)
| Group | Criteria |
|---|---|
| AQP4-IgG positive | At least 1 core clinical characteristic, and alternative diagnoses excluded |
| AQP4-IgG negative or unknown | At least 2 core characteristics from separate attacks, including optic neuritis, longitudinally extensive myelitis or area postrema syndrome, with supporting MRI findings |
| Core clinical characteristics | Optic neuritis; acute myelitis; area postrema syndrome (hiccups, vomiting); brainstem syndrome; narcolepsy or diencephalic syndrome; cerebral syndrome with typical lesions |
MOG antibody disease (MOGAD) has its own criteria (2023). The old Wingerchuk 2006 criteria (optic neuritis + myelitis + 2 of 3 supporting features) are now historical.
More: Optic neuritis
Diabetes: diagnosis, targets and eye screening (ADA)
| Item | Current standard |
|---|---|
| Diagnosis (any one) | Fasting plasma glucose ≥ 126 mg/dL (7.0 mmol/L); 2-hour OGTT glucose ≥ 200 mg/dL (11.1 mmol/L); HbA1c ≥ 6.5%; random glucose ≥ 200 mg/dL with symptoms |
| Targets for most adults | HbA1c under 7%; blood pressure under 130/80 mmHg; LDL cholesterol under 70 mg/dL (under 55 mg/dL with cardiovascular disease) |
| First eye exam: type 1 | Within 5 years of diagnosis |
| First eye exam: type 2 | At diagnosis |
| Follow-up | Yearly; every 1–2 years if no retinopathy and good control; more often if retinopathy progresses |
| Pregnancy | Before conception or in the first trimester, then each trimester and for 1 year after delivery |
More: Diabetic retinopathy guide
Fundus photography for DR: 7 standard fields
The Airlie House (DRS) protocol used seven 30° stereo fields; the ETDRS modified it to seven 35° fields, still the research standard. Wide-field and ultra-wide-field imaging now often replace it.
| Field | Centred on |
|---|---|
| 1 | Optic disc |
| 2 | Macula |
| 3 | Temporal to the macula |
| 4 | Superotemporal, tangent to the disc |
| 5 | Inferotemporal |
| 6 | Superonasal |
| 7 | Inferonasal |
Lamellar macular hole (consensus definition, 2020)
| Entity | OCT criteria |
|---|---|
| Lamellar macular hole | Mandatory: irregular foveal contour; foveal cavity with undermined edges; at least one sign of foveal tissue loss (pseudo-operculum, central foveal thinning, ellipsoid zone defect). Optional: epiretinal proliferation, foveal bump |
| Epiretinal membrane foveoschisis | Contractile ERM; schisis at the level of Henle fibre layer; may have microcystoid spaces in the INL |
| Macular pseudohole | Foveal-sparing ERM with verticalised foveal edges; near-normal central thickness |
Fraser (cryptophthalmos) syndrome (Thomas criteria)
At least 2 major and 1 minor criterion, or 1 major and 4 minor. Major: cryptophthalmos, syndactyly, abnormal genitalia, affected sibling. Minor: malformations of the nose, ears or larynx, cleft lip or palate, skeletal defects, umbilical hernia, renal agenesis, intellectual disability. A revised scheme (van Haelst, 2007) adds urinary tract and laryngeal anomalies as major criteria.
Related: Classifications, Gradings and stagings, Screening schedules.
Revise with flip cards
📘 Want the exam-ready deep dive? This topic, and much more is covered in Ophthalmology Explorer (A High-Yield Clinical Reference for Ophthalmology Residents, Fellows & Board Exams) — available on Kindle. See all my books.
Experiencing symptoms like these? Learn about our Eye Department or book a consultation with Dr. Dhaval Patel.