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Glaucoma

Signs and symptoms

In the adult and juvenile forms of open-angle glaucoma, vision loss begins at the periphery (outer edges) of the visual field, resulting in tunnel vision. Because the visual loss in not in the individual's central vision, they may not notice this change. However, if the glaucoma is left untreated, loss of vision progresses and the central vision is often affected, sometimes resulting in blindness. The average time from development of high eye fluid pressures to the appearance of visual loss is 18 years in the adult form, but much shorter in the juvenile form.

In contrast to the adult and juvenile forms, congenital or infantile open-angle glaucoma is noted at birth or

Types of glaucoma and related genetic information
Disorder	Alternative names	Inheritance	Abnormal protein	Abnormal gene	Gene location
Glaucoma 1, open angle, A (GLC1A)	Juvenile onset primary open-angle glaucoma; Hereditary juvenile glaucoma	Autosomal dominant	Trabecular meshwork-induced glucocorticoid response protein (myocilin)	MYOC, (also known as TIGR, GLC1A, JOAG, GPOA)	1q24.3–q25.2;
			Unknown	Unknown	9q34.1
Glaucoma 1, open angle, B (GLC1B)	Adult onset primary open-angle glaucoma; Hereditary adult glaucoma	Autosomal dominant	Unknown	Unknown	2qcen–q13; (additional loci under investigation)
Glaucoma 1, open angle, C (GLC1C)	Adult onset primary open-angle glaucoma; Hereditary adult glaucoma	Autosomal dominant	Unknown	Unknown	3q21–q24
Glaucoma 1, open angle, D (GLC1D)	Adult onset primary open-angle glaucoma; Hereditary adult glaucoma	Autosomal dominant	Unknown	Unknown	8q23
Glaucoma 1, open angle, E (GLC1E)	Adult onset primary open-angle glaucoma; Hereditary adult glaucoma	Autosomal dominant	Unknown	Unknown	10p15–p14
Glaucoma 1, open angle, F (GLC1F)	Adult onset primary open-angle glaucoma; Hereditary adult glaucoma	Autosomal dominant	Unknown	Unknown	7q35–36
Glaucoma 3, primary infantile, A (GLC3A)	Congenital glaucoma; Buphthalmos	Autosomal recessive	Cytochrome P4501B1	CYP1B1	2p22–p21
Glaucoma 3, primary infantile, B (GLC3B)	Congenital glaucoma	Autosomal recessive	Unknown	Unknown	1p36.2–36.1
Iridogoniodysgenesis, type 1 (IRID1)	Iridogoniodysgenesis anomaly; familial glaucomaIridogoniodysplasia	Autosomal dominant	Forkhead Transcription factor	FKHL7	6P25
Iridogoniodysgenesis, type 2 (IRID1)	Iridogoniodysgenesis anomaly; Iris hypoplasia with early-onset glaucoma	Autosomal dominant	Paired-like homeodomain transcription factor-2	PITX2 (also known as; IDG2, RIEG1, RGS, IGDS2)	4q25–q26
Rieger syndrome, type 1 (RIEG1)	Iridogoniodysgenesis with Somatic anomalies	Autosomal dominant	Paired-like homeodomain transcription factor-2	PITX2 (also known as; IDG2, RIEG1, RGS, IGDS2)	4q25–q26
Rieger syndrome, type 2 (RIEG2)	Iridogoniodysgenesis with Somatic anomalies	Autosomal dominant	Unknown	Unknown	13q14
Glaucoma-related pigment dispersion syndrome (GPDS1)	Pigment dispersion syndrome and pigmentary glaucoma	Autosomal dominant	Unknown	Unknown	7q35–q36

within the first three years of life. Symptoms include cloudy corneas, excessive tearing, and sensitivity to light. Because the eye is very flexible in infants, increased fluid pressure may cause bulging of the eye (buphthalmos, or "ox eye"). Children with glaucoma in only one eye are usually diagnosed earlier because a difference in eye size can be noticed. When the disorder affects both eyes, many parents view the large eyes as attractive and do not seek help until other symptoms develop, delaying the diagnosis.

With closed-angle glaucoma, symptoms come on suddenly. People may experience blurred vision, severe pain, headache, sensitivity to light, and nausea. The development of this type of glaucoma is an emergency and requires immediate treatment.

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Content licensed from:

Author Info: Oren Traub MD, PhD, The Gale Group Inc., Gale, Detroit, Gale Encyclopedia of Genetic Disorders Part I, 2002

This feature is for informational purposes only and should not be used to replace the care and information received from your healthcare provider. Please consult a healthcare professional with any health concerns you may have.

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