An Atypical Presentation of Goldenhar Syndrome With Seizures: A Rare Case Report.

The Goldenhar syndrome also known as oculo-auriculo-vertebral dysplasia is one of the rare congenital defects that usually involves the impaired development of structures derived from first and second branchial arches such as ears, eyes, mandible, palate and various other structures of the face along with spinal abnormalities. The severity of Goldenhar syndrome anomalies can range from minor to severe, and patients with modest facial asymmetry to those with a highly evident facial abnormality. The most typical characteristics of this condition are dental ailments and impaired development of the mandible, maxilla, zygomatic, orbital, lips, tongue, and palate. It may also include hemifacial microsomia along with the cleft lip or cleft palate. The aetiology may include genetic and environmental factors but in most of the cases, the aetiology remains unknown. Gestational diabetes mellitus is also one of the leading risk factors associated with Goldenhar syndrome. The treatment and management depend upon the age of the patient and the clinical presentation. This case report describes an eight-year-old male child with generalised tonic-clonic seizures in all the limbs along with peri auricular skin tags, mandibular hypoplasia and esophageal stricture. There were no ocular findings or vertebral deformities.

Severe Combined Immunodeficiency (SCID) and Its New Treatment Modalities.

Severe combined immunodeficiency (SCID) is a rare condition with very high mortality. SCID is mainly caused by the multiple mutations of genes affecting the entire immune cells. Children with this disease are born with an impaired immune system. The child appears healthy but the consequences of the impaired immune system lead to various secondary infections such as meningeal infections and respiratory infections further leading to consolidation, diarrhea, inflammation of skin and other systemic diseases. Severe combined immunodeficiency is also known as "bubble boy disease" or "living in the bubble" syndrome, as in early days for treatment the physicians decided to completely isolate them until they got the perfect match for the bone marrow transplantation. It is one of the pediatric emergencies and is to be treated as soon as possible. SCID involves multiple genes which leads to makes diagnosis of the disease cumbersome. In early years many infants were diagnosed almost after half a year and in severe conditions which led to the decrease in the survival rate of the children. But now due to advanced newborn screening modalities and other monitoring systems it can be diagnosed as early as within three months of age. The various treatment modalities include hematopoietic stem cell transplantation, gene therapy, enzyme replacement therapy and chemotherapy. This narrative review article describes about the severe combined immunodeficiency and its newer treatment modalities.

Endophthalmitis After Cataract Surgery: A Postoperative Complication.

Endophthalmitis is a condition of the eye caused due to complications in cataract surgery. The extent of this complication can be from minor to very serious, leading to a permanent loss of light perception. It is generally an inflammation of the fluids present in the anterior and posterior chamber of the eye, consisting of vitreous and aqueous fluid. The inflammation is due to the infection of these fluids after their exposure during or after the cataract surgery. In today's situation, patient surgery is the most frequently preferred for the correction or treatment of the cataract. There are various factors causing endophthalmitis in cataract surgery. This condition occurs mostly by the entry of infective bacteria such as staphylococcus, gram-negative organisms, and streptococcus species. As well as fungi like aspergillus and candida. Cataract surgery has many risk factors that can be divided into preoperative, intraoperative, and postoperative phases. The most common symptom of this condition is pain in the eyes and redness, which sometimes leads to purulent discharge, causing decreased vision or loss of eyesight. The increasing inflammation of the vitreous fluid is the main identification of the condition. There is a surge of inflammatory cells in the space of the vitreous fluid. The condition can be classified into two types which are exogenous and endogenous. In these types, subtypes explain the postoperative complications of the disease. It is a rare condition, and the percentage of it occurring as a postoperative complication is very low. It generally targets the old age group of people. This narrative review article explains endophthalmitis as a postoperative complication of cataract surgery and its treatment modalities. The terms endophthalmitis, postoperative, cataract surgery, complications, and vitreous humor were used for the review article in PubMed.

A Review of Corneal Blindness: Causes and Management.

Corneal blindness refers to a group of eye disorders that change the corneal transparency, causing corneal scarring and blindness. The leading causes of corneal blindness include infectious causes, i.e., due to bacteria, viruses, fungi, and protozoa. The most common predisposing factors are trauma, contact lens usage, or the use of steroid medications. The various other diseases included are trachoma, dry eye disease, keratoconus, ophthalmia neonatorum, and non-infectious uveitis. Various clinical modalities are used for treating corneal blindness, including organ transplantation. Organ donation is cumbersome as various ethical and other factors are involved. Hence the concept of eye banking was introduced to meet the increasing demand for donors of the cornea. The eye bank's role is harvesting, processing, and keeping a record of the cornea being transplanted and donated. Furthermore, various recent advancements have been made for lamellar keratoplasty surgeries, including bioengineered corneas to fulfil the need for the unavailability of donors for the cornea. Various specific health interventions have been implemented to reduce the prevalence of corneal blindness globally. For proper management of corneal blindness, we have three components that are needed to be taken care of: prevention of corneal blindness, appropriate treatment modalities, and providing adequate rehabilitation services to the patients. This review encompasses the main reasons for corneal blindness and the management and treatment modalities available for the patients. The terms cornea, corneal blindness, treatment, management, causes, and complications were used for the review article on PubMed.