Chromosomal diseases
• One of the important findings in the retina in chromosomal diseases is coloboma.
• At the 4-week fetal stage in the embryology of the eye, the optic vesicle protruding from the forebrain to form the eye collapses into itself to form a spherical structure and merges along the lower nasal line. These closure (merger) defects are known as colobomas.
• Choroidal coloboma can be seen in Schmid Fraccaro syndrome, retinal dysplasia and detachment in Patau syndrome, retinal coloboma and optic atrophy in Trisomy 18.
Cardiac diseases
• Cardiac myxoma: retina! arterial embolisms
• Congenital heart disease: changes secondary to hypoxia.
• Endocarditis: emboli (thrombus, septic embolism) and associated Roth spot appearance, hemorrhage and exudates
• Mitral valve prolapse: a/v occlusions, amaurosis fugax,
• HT: Hypertensive retinopathy findings
• Aortic arch syndrome (Takayasu) ...... Retinal neovascularization
Collagen tissue diseases
• A. spondylitis: Uveitis
• Reiter sends: non-specific urethritis, arthritis, conjunctivitis or iritis
• JRA: uveitis
• Temporal arteritis: Ischemic optic neuropathy, a. fugax, central retinal artery occlusion, cranial nerve palsies, bilateral involvement may occur. Pain in the temples, claudication in chewing movement, high sedimentation, diagnosis is made by temporal artery biopsy.
• Behçet's disease: Vascular thrombosis, iritis, oral and genital mucocutaneous ulcerations.
Endocrine diseases
• Addison's disease: MSH increases----hyperpigmentation (conj., sclera .. ), papilledema (increased intracranial pressure -CIBAS-secondary)
• Cushing: Intraocular pressure (IOP) increases. It is caused by an excess of corticosteroids. exophthalmos, hypertensive retinopathy; Neuroophthalmological findings due to pituitary tumor
• DM: Diabetic retinopathy, papillopathy, cataract development, oculomotor paralysis
• Hyperparathyroidism: Band keratopathy, con, /scleral calcifications
• Hypoparathyroidism cataract in 60%; conjunctivitis, keratitis, papilledema (due to CIBAS)
• Hyperthyroidism: Lid involvement-retraction, lid lag, decreased clipping; exophthalmos; extraocular muscle involvement; exposure keratopathy; compressive optic neuropathy
• Hypothyroidism. Lid edema (mucopolysac. accumulation); shedding of eyelashes
• Pheochromocytoma: Hypertensive retinopathy findings
Metabolic diseases
• Galactosemia: Causes congenital cataract. It can be prevented with proper diet. The corneal endothelium is the layer that has the most effective role in ensuring the transparency of the cornea.
• Albinism: Albino fundus, macular hypoplasia, nystagmus, VEP pathologies
• Congenital Lipidoses: Lipemia retinalis, white appearance as if filled with milk in retinal vessels
• Mucopolysaccharidosis: Pigmentary retinopathy, optic atrophy
• Niemann- Pick: Cherry red spot in the macula
Roth spot: These Roth spots, which can be defined as a white or dirty yellow center and a red focus surrounded by hemorrhage, are most commonly seen in severe anemias, leukemias, and subacute bacterial endocarditis.
Skin and mucous membrane diseases
• Angioid streaks: It is the typical appearance formed by thin cracks in Bruch's membrane, located between the retinal pigment epithelium and the choroid. They are lines that originate from the optic disc and extend radially in many directions, appearing as retinal vessels, and ending abruptly towards the equator. It is frequently seen in Ehlers-Danlos syndrome, Pseudoxantoma elasticum, and Paget's disease.
• Phakomatoses: These are hereditary diseases that involve the central nervous system, skin and eye together.
• Neurofibromatosis: NF1 (von Recklinghausen disease); eyelid plexiform neurofibroma, optic nerveglioma, orbital tumors (schwannoma, plexiform neurofibroma, meningioma), spheno-orbital encephalocele, bilateral Lisch nodules (hamartoma), congenital ectropion uvea, prominent corneal nerves, glaucoma, choroidal hamartoma.
NF2; presenile cataract, epiretinal membrane, ocular motor defects etc.
• in Tuberous sclerosis (Bourneville's disease); Retinal astrocytic hamartomas, a benign tumor with a white berry-like appearance originating from astrocytes, are detected in the posterior pole. Apart from fundus astrocytomas, iris hypopigmentation and atypical iris colobomas can be seen.
• Ipsilateral glaucoma, episcleral hemangioma, iris heterochromia and diffuse choroidal hemangioma (does not cause keratitis) in Sturge Weber syndrome
• Von Hippel Lindau disease; retinal capillary hemangioblastomas
