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Rare Eye Disease That Causes Blindness And An Humpback

Different deformities of the back, ribs, and chest have been observed. Many persons with FSS have humpback (kyphosis), swayback (lordosis) or sideways (scoliosis) curves in the back bones. If the abnormalities in the curves of the spine and breastbone are significant, they can restrict internal organs of the chest and abdomen and cause gastrointestinal, lung, and heart problems. In people with FSS, the muscles between the ribs (intercostal muscles) often are non-functional, making breathing and coughing difficult (reduced respiratory effort and tussive ability) and rarely causing harm to the lungs (pulmonary hypertension) and heart (right heart strain and cor pulmonale). Not being able to breathe deeply and cough well also can make it difficult to recover from lower respiratory infections. When present, the combination of severely abnormal curves of the backbone and non-functional muscles between the ribs (intercostal muscles) may result in chronic lung problems (reduced intrathoracic volume, impaired thoracic cage compliance, impaired exercise tolerance, reduced ventilation of oxygen, and restrictive pulmonary disease). Notably, there is no evidence of FSS directly causing lung or heart problems. Some of the indirect or secondary lung and heart problems that persons with FSS may experience because of non-functional muscles between the ribs and possibly other areas of the chest can resolve or have improvement with exercise and medical treatment. Less frequently, some people may have deformities of the ribs and breastbone (sternum) cartilage, causing either a sunken (pectus excavatum) or jutted out (pectus carinatum) appearance of the chest. Rarely, persons may have small openings in the spinal bones (spina bifida occulta).

rare eye disease that causes blindness and an humpback

FSS appears to occur all ethnicities, both biologic genders and all geographic regions, evenly. FSS is an exceptionally rare disorder. It is estimated that 200-300 individuals worldwide may be affected, but the number of diagnosed and undiagnosed persons with FSS (population prevalence) remains uncertain.

Powered by NORD, the IAMRARE Registry Platform is driving transformative change in the study of rare disease. With input from doctors, researchers, and the US Food & Drug Administration, NORD has created IAMRARE to facilitate patient-powered natural history studies to shape rare disease research and treatments. The ultimate goal of IAMRARE is to unite patients and research communities in the improvement of care and drug development.

NORD is a registered 501(c)(3) charity organization.Please note that NORD provides this information for the benefit of the rare disease community. NORD is not a medical provider or health care facility and thus can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments. Patients must rely on the personal and individualized medical advice of their qualified health care professionals before seeking any information related to their particular diagnosis, cure or treatment of a condition or disorder.

Human gnathostomiasis is caused by several species of parasitic worms (nematodes) in the genus Gnathostoma. The disease is found and is most commonly diagnosed in Southeast Asia, though it has also been found elsewhere in Asia, in South and Central America, and in some areas of Africa. People become infected primarily by eating undercooked or raw freshwater fish, eels, frogs, birds, and reptiles. The most common manifestations of the infection in humans are migratory swellings under the skin and increased levels of eosinophils in the blood. Rarely, the parasite can enter other tissues such as the liver, and the eye, resulting in vision loss or blindness, and the nerves, spinal cord, or brain, resulting in nerve pain, paralysis, coma and death.

Wyburn-Mason syndrome is a rare nonhereditary disorder that is present at birth (congenital). Affected infants have arteriovenous malformations (AVMs), which are developmental abnormalities affecting the blood vessels, specifically the arteries, veins and capillaries. Arteries typically carry oxygen-rich blood from the heart to body cells, while veins transport oxygen-deficient blood to the heart and lungs for the exchange of oxygen and carbon dioxide. The network of very tiny blood vessels (capillaries) that normally connects arteries and veins may be absent and the arteries and veins may be directly linked together forming a malformation. Without the capillaries, there can be damage to the walls of the arteries and veins, causing abnormal and high blood flow and leakage, and lack of blood flow further downstream. Larger AVMs may consist of a tangled mass of abnormal or malformed blood vessels (the nidus). AVMs associated with Wyburn-Mason syndrome are usually found in the eyes (retina) and brain. The exact cause of Wyburn-Mason syndrome is unknown, although it is hypothesized that during early development, the precursor cells to blood vessels have abnormal movement (migration) causing abnormal development later.

Wyburn-Mason syndrome is sometimes grouped with the phakomatoses or neurocutaneous syndromes. This broad group of disorders is characterized by masses or tumors that may grow in the brain, spinal cord and other organs. In children, skin lesions are also prominent. Unlike other so-called phakomatoses, Wyburn-Mason syndrome rarely has skin abnormalities.

Wyburn-Mason syndrome is an extremely rare disorder that appears to affect males and females in equal numbers. The incidence or prevalence rates of Wyburn-Mason syndrome in the general population are unknown, with less than 100 cases reported.

X-linked genetic disorders are conditions caused by a non-working (non-functional) gene on the X chromosome and typically manifest mostly in males. Females that have a non-working gene present on one of their X chromosomes are carriers for that disorder. Carrier females usually do not usually display symptoms because females have two X chromosomes and only one carries the non-working gene. However, some carrier females may exhibit some of the symptoms associated with the disorder as mentioned above. Males have one X chromosome that is inherited from their mother and if a male inherits an X chromosome that contains a non-working gene, he will develop the disease.

The treatment of Lenz microphthalmia syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, physicians who diagnose and treat diseases of the eye (ophthalmologists); dental specialists who diagnose, prevent, and/or correct anomalies of the teeth (orthodontists); specialists who diagnose and treat skeletal anomalies (orthopedists); and/or others may need to work together to ensure a comprehensive approach to treatment.

Glucocorticoids exert negative feedback effects on the HPA axis. They directly suppress adrenocorticotropic hormone (ACTH) and corticotropin-releasing hormone (CRH) secretion. Additionally, by suppressing the release of pro-inflammatory cytokines that stimulate ACTH and CRP secretion, glucocorticoids further suppress ACTH and CRH secretion indirectly in inflammatory diseases. Chronic HPA axis suppression by glucocorticoids leads to functional adrenal atrophy (sparing the mineralocorticoid producing outer adrenal cortex that is functionally independent of ACTH). The risk of this functional adrenal atrophy and insufficiency is challenging to predict and varies from patient to patient but is largely dependant on the dose and duration of glucocorticoid therapy. The adrenal function generally recovers by slow tapering of glucocorticoids.

Glucocorticoids increase the risk of adverse GI effects, such as gastritis, gastric ulcer formation, and GI bleeding.[19] The use of NSAIDs and glucocorticoids is associated with a 4-fold increased risk of a GI adverse effect compared with the use of either drug alone. Other complications associated with glucocorticoid use include pancreatitis, visceral perforation, and hepatic steatosis (fatty liver) that can rarely lead to systemic fat embolism or cirrhosis.

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