Diagnostic Criteria in Ophthalmology


2010 revised Ghent nosology
The 2010 Revised Ghent Nosology for Marfan syndrome relies on 7 rules as indicated below:
In the absence of family history:
In the presence of family history:
* Caveat: Without discriminating features of SGS, LDS or vEDS
- AND after TGFBR1/2, collagen biochemistry, COL3A1 testing if indicated
- other conditions/genes will emerge with time

Diagnostic Criteria -- Scoring of Systemic Features

·        Modified diagnostic criteria for VKH syndrome

In complete VKH, criteria 1–5 must be present.
In incomplete VKH, criteria 1–3 and either 4 or 5 must be present.
In probable VKH (isolated ocular disease), criteria 1–3 must be present.

1   Absence of a history of penetrating ocular trauma
2   Absence of other ocular disease entities
3   Bilateral uveitis
4   Neurological and auditory manifestations
5   Integumentary findings, not preceding onset of central nervous system or ocular disease, such as alopecia, poliosis and vitiligo

Diagnostic criteria for cryptophthalmos syndrome

For diagnosis of cryptophthalmos syndrome, patients must have at least two major criteria and one minor criterion, or they may have one major criterion and four minor criteria.

Major criteria
1. Cryptophthalmos
2. Syndactyly
3. Abnormal genitalia
4. Sibling with cryptophthalmos syndrome

Minor criteria
1. Congenital malformation of the nose
2. Congenital malformation of the ears
3. Congenital malformation of the larynx
4. Cleft lip and/or palate
5. Skeletal defects
6. Umbilical hernia
7. Renal agenesis
8. Mental retardation


six or more café-au-lait spots
each 1.5 cm or larger in postpubertal individuals
each 0.5 cm or larger in prepubertal individuals
two or more neurofibromas of any type or one or more plexiform neurofibroma
freckling in the axilla or groin
optic nerve glioma
two or more Lisch nodules of the iris
a distinctive bony lesion
dysplasia of sphenoid bone
dysplasia or thinning of long bone cortex
a first-degree relative with neurofibromatosis type 1

Graves' ophthalmopathy

In 1995, Bartley and Gorman proposed diagnostic criteria for Graves' ophthalmopathy as eyelid retraction with objective thyroid dysfunction, or either eyelid retraction or objective thyroid dysfunction in association with exophthalmos, optic neuropathy, or extraocular muscle involvement.

Neuromyelitis optica (NMO)

• optic neuritis (uniJ ateral or bilateral)
• myelitis
• plus at least 2 of t h e following:
• a contiguous spina l cord lesion o n MRJ in vol ving 3 ver tebral segm ents or more
• a brain MRl no ndiagnostic forMS
• a positive NMO- IgG serologic test

Criteria for the Diagnosis of Diabetes

  1. FPG >126 mg/dl (7.0 mmol/l). Fasting is defined as no caloric intake for at least 8 h.*


  1. Symptoms of hyperglycemia and a casual (random) plasma glucose ≥ 200 mg/dl (11.1 mmol/l). Casual (random) is defined as any time of day without regard to time since last meal. The classic symptoms of hyperglycemia include polyuria, polydipsia, and unexplained weight loss.


  1. 2-h plasma glucose ≥ 200 mg/dl (11.1 mmol/l) during an OGTT. The test should be performed as described by the World Health Organization using a glucose load containing the equivalent of 75-g anhydrous glucose dissolved in water.*

Recommendations for Glycemic, Blood Pressure, and Lipid Control for Adults with Diabetes

1.       A1C < 7.0%*
2.       Blood pressure < 130/80 mm Hg
3.       Lipids: LDL cholesterol < 100 mg/dl (< 2.6 mmol/l)

Glycemic Recommendations for Nonpregnant Adults with Diabetes

1.       A1C < 7.0%*
2.       Preprandial capillary plasma glucose: 70–130 mg/dl
3.       Peak postprandial capillary plasma glucose < 180 mg/dl

Diabetic Retinopathy Screening

ü  Adults with type 1 diabetes should have an initial dilated and comprehensive eye examination by an ophthalmologist or optometrist within five years after the onset of diabetes (AAO and ADA).
ü  Patients with type 2 diabetes should have an initial and comprehensive eye examination by an  ophthalmologist or optometrist at the time of diagnosis of diabetes (AAO and ADA).
— Subsequent examinations for type one and type two patients should be repeated annually by an ophthalmologist or optometrist who is knowledgeable and experienced in diagnosing the presence of diabetic retinopathy and is aware of its management.
Less frequent exams (every 2–3 years) may be considered with the advice of an eye care professional in the setting of a normal eye exam. Examinations will be required more frequently if retinopathy is progressing (ADA).
ü  When planning pregnancy, women with preexisting diabetes should have a comprehensive eye examination and should be counseled on the risk of development and/or progression of diabetic retinopathy. Women with diabetes who become pregnant should have a comprehensive eye examination in the first trimester and close followup throughout pregnancy and for one-year postpartum.

Airlie House Classification

Seven standard fields of 30° were described as the Arlie House Classification and were used on the Diabetic Retinopathy Study Protocol. This was slightly modified for the ETDRS to the Modified 7- standard field protocol-35° and became the standard protocol in fundus photography for diabetic retinopathy

This is a technique of taking a series of photos, using the stereoscopic setting on the digital fundus camera. All of these fields utilize a 35-degree field of view.
Field 1 is centered on the optic nerve.
Field 2 is centered on the macula;
Field 3 temporal to the macula;
Field 4 superotemporally, excluding the optic disc;
Field 5 inferotemporally, excluding the optic disc;
Field 6 superonasally along the arcades, excluding the optic disc; and
Field 7 inferonasally, excluding the optic disc

Lamellar macular hole

Criteria for diagnosis of lamellar hole were as follows:
(1) an irregular foveal contour;
(2) a break in the inner fovea;
(3) separation of the inner from the outer foveal retinal layers, leading to an intraretinal split;
(4) absence of a full thickness foveal defect with intact photoreceptors posterior to the area of foveal dehiscence.

- compiled & published by Dr Dhaval Patel MD AIIMS