Septo - optic Dysplasia was discovered for the first time by Dr. Reeves in 1941 . Septo - optic Dysplasia was previously anticipate as de Morsier ’s syndrome . Since it dwell of three major symptom , it is currently call off as Septo - optic Dysplasia ( SOD ) complex .
What is Septo-optic Dysplasia?
Septo - optic dysplasia is a rare congenital disorder , wherein there is an former developmental abnormality of the prosencephalon . Septo - optical dysplasia is characterized by a triad of symptom , which includes underdevelopment of optic face , absence of septum pellucidum and underdeveloped pituitary secreter ( pituitary hypoplasia ) .
The optic nerve underdevelopment or hypoplasia leads to optical nerve which are small and make fewer contacts than normal between the eyes and the brain . It chair to afflicted or miserable imagination in either one or both the eyes and in some typeface it leads to blindness . It is also associated with strange side to side movement and other heart problems .
Further symptom of Septo - optic dysplasia indicates that during other developmental phase , there is an abnormal ontogenesis of structures , especially of the septum pellucidum , which separates the right and entrust halves of the brainiac . There is either an mental defectiveness or the septum pellucidum fails to uprise which in turn leads to neurologic trouble .
The third symptom is of pituitary hypoplasia . The pituitary secretory organ present at the base of the brain make authoritative endocrine that hold in independent functions of our body . Due to which it is called as the master control gland . When there is underdevelopment of this secretory organ , it leads to either no or less production of hormones . This in bit affects the integral development of an somebody .
Symptoms of Septo-optic Dysplasia
The polarity and symptoms of Septo - optic Dysplasia can vary in somebody . Some people endure from Septo - oculus dysplasia may present with all the three characteristics , while some may represent with any two symptoms . Only in 30 % cases all the symptom of Septo - optic dysplasia are observed , while in 62 % cases any two symptoms of Septo - optical dysplasia are seen . When any one of the symptom is get in isolation , it is not deal as a case of Septo - visual Dysplasia .
The following symptoms of Septo - ocular dysplasia are celebrate :
Epidemiology of Septo-optic Dysplasia
Septo - optic dysplasia is rare and occurs in 1 in 10,000 alive births . Septo - optical dysplasia can be seen in both manful and female infant . Although most case are sporadic , there are some patient which show familial inheritance pattern .
Prognosis of Septo-optic Dysplasia
The before the diagnosing of Septo - optic dysplasia is done , the better is the outcome . When child is untreated for abnormalities , the patient with Septo - opthalmic dysplasia is at increase risk of hypoglycemia , adrenal crises and ultimately death .
Causes of Septo-optic Dysplasia
The exact suit for Septo - optic dysplasia is not known . It is observed that Septo - optical dysplasia takes situation in the baby bear to very youthful aged mothers . It is sporadic and does not show return with subsequent pregnancies .
Genetic and molecular studies discover genes HESX1 , OTX2 and SOX2 recreate an significant role in embryonic exploitation and are necessary for the formation of heart , pituitary secretory organ and forebrain structures . Any mutations in these gene conduce to irregularity during development of these structures . The on-going researches direct to happen more such genetical mutations which might be leading to the condition of Septo - optic dysplasia .
Most of the Septo - optic Dysplasia cases are sporadic ; while few show transmitted inheritance as either autosomal recessive condition or autosomal dominant formula of inheritance .
Risk Factors in Septo-optic Dysplasia
Both genetical and environmental divisor are predicted to play a role in causing septo - opthalmic dysplasia . Environmental risk factor of Septo - optic dysplasia include viral infection , some medicines , alcohol and obstruction to the menstruum of blood to specific field of the brain during significant developmental form of the foetus .
Diagnosis of Septo-optic Dysplasia
Diagnosis of Septo - optic dysplasia involves multidisciplinary diagnosis with clinicians from different fields .
Treatment of Septo-optic Dysplasia
There is no undivided medical treatment usable to treat Septo - oculus dysplasia completely . Generally , surgical operation can be perform to correct the optical nerve abnormalities . Hormonal therapy or hormonal surrogate therapy for Septo - opthalmic dysplasia is given to discipline the less amount of endocrine grow by the pituitary secreter .
Coping with Septo-optic Dysplasia
affected role with Septo - eye Dysplasia are required to go for regular follow - ups with multi - disciplinary team . The patient take to hold in with the operation of the eye , hormonal levels and brainpower development . familial counsel is done in cases where there is associated familial risk .
Septo - optic dysplasia is a very rare , heterogeneous disorder . Due to its variable symptoms , there is important holdup in its precise diagnosing . Overall , more research studies are command to get adept savvy of Septo - optic dysplasia which will enable appropriate diagnosing and treatment strategies to assist the patient leave a better aliveness in future .
