Cover news reporter Zhou Zhuoyue.
Every year on the last day of February, International Rare Disease Day is celebrated. In 2018 and 2023, the state released two batches of the Rare Disease Catalogue, containing a total of 207 rare diseases, of which 9 ophthalmic rare diseases were included. Up to now, the reporter learned that experts and scholars from Chengdu Aidi Eye Hospital have accurately diagnosed a number of rare eye diseases and successfully treated them.
Amoebic keratitis: There are only 100 confirmed cases in the country in a year.
Amoebic keratitis is very rare in clinical practice, and there are only about 100 cases diagnosed in a year nationwide. It is harmful and difficult.
In May 2022, Professor Kang Qian, an expert in corneal transplantation surgery at Chengdu Aidi Eye Hospital, published a SCI article in International Refractive Surgery, introducing the study of 3 patients with amoebic keratitis. One of the patients, Lasek, was infected with amoebic keratitis after surgery, and after being transferred to Eddie Ophthalmology, he underwent a penetrating corneal transplant in addition to the drug**, and his postoperative vision was restored to 05。
According to Professor Kang Qian, amoebic protozoa are widely distributed in air, soil, and water, and have even been isolated from the nasal cavity and oral mucosa. Infection of the cornea by contact with amoebic water. In recent years, the main causes of amoebic keratitis are glasses wearing, non-standard cleaning and amoebic protozoan contaminants in the eye.
Morning glory syndrome: 1 in 100,000.
The incidence of morning glory syndrome is only 1 in 100,000. The patient was born with a congenital abnormality of the nipple, and was described as "a poppy blooming under the eye" because the shape of the fundus resembled a blooming morning glory. Patients have poor eyesight since childhood, generally no more than 002。
As early as 2013, Professor Hu Yuzhang and Director Zhou Bo of Fundus Disease received a 10-year-old patient with morning glory syndrome. When the child was 3 years old, the parents found that the child had vision problems, and traveled to Beijing, Shanghai, Guangzhou and other places, but they were not diagnosed. Professor Hu Yuzhang and Director Zhou Bo found that his nystagmus and his optic disc were three times larger than normal into a funnel-shaped, thus confirming the diagnosis of morning glory syndrome.
President Hu Yuzhang sees the patient.
In order to save the child's eyesight, two experts jointly operated on the emergency mechanism of vitreoretinal surgery, and performed combined surgery with glass resection and cataract lens extraction. After 90 minutes of intense surgery, the detached retina of the child was successfully reduced, and the enucleation crisis was resolved.
Director Zhou Bo formulates a plan for the patient.
Periodic oculomotor palsy: the 20th case in China was found in Eddie Ophthalmology.
Periodic oculomotor nerve palsy is extremely rare, with only more than 90 cases reported globally and only 19 cases in China. It results from damage to the oculomotor nerve caused by intracranial and extracranial lesions.
On February 5 this year, Professor Liao Jun, an expert in strabismus and pediatric ophthalmology at Chengdu Aidi Eye Hospital, received a 15-year-old young patient whose right eyelid would hang down from time to time to cover his eyes, accompanied by the inability to move the eyeball of his right eye and the spasm and twitching of his eyelids. Professor Liao Jun repeatedly consulted the information and consulted Professor Zhao Kanxing, a leading expert in the field of strabismus and pediatric ophthalmology in China, and was finally diagnosed with a very rare periodic oculomotor nerve palsy.
Professor Liao Jun said that this is the 20th case of periodic oculomotor nerve palsy found in China. She will continue to follow the patient's recovery after surgery and conduct in-depth research on the disease.
Professor Liao Jun's surgery is in progress.
These ophthalmic diseases are included in the National Rare Disease List
Hereditary eye disease - retinitis pigmentosa:
Retinitis pigmentosa is a retinal degenerative disease characterized by degenerative changes that occur together with photoreceptor cells and pigment epithelium, and is an inherited eye disease. It is typically characterized by difficulty seeing clearly at night in the early days, with some people having temporary night blindness and others being congenital night blindness; In the middle and late stages, vision begins to deteriorate, and the visual field gradually narrows, eventually leading to blindness; It often begins in adolescence.
If you have a family history of retinitis pigmentosa, you need to be careful, there may be a certain probability of inheritance, if you find that you can't see clearly at night and your vision is reduced, you need to go to a professional eye hospital for examination in time; If you want to have a baby, it is recommended to have a genetic counseling test before or during pregnancy.
Cat's Eye" – Retinoblastoma:
Retinoblastoma (RB) is the most common intraocular malignant tumor in children, the disease has a high incidence in early childhood, is not easy to be detected in the early stage, is common in infants and young children under 3 years old, has a familial genetic tendency, and can occur in one or both eyes successively or at the same time.
The symptoms are decreased vision, white pupils, and "cat's eyes", which are often found by parents due to visual impairment such as dilated pupils, leukopupil syndrome, or strabismus. At this time, if it cannot be detected and effectively intervened, retinal detachment occurs in the fundus, and then the tumor grows, which increases the intraocular pressure and expands the eyeball, forming a "bull's eye"; In the late stage, it can extend to the eyelids, orbits and optic nerve in the skull, and can also be transferred to the liver, kidney, bones and other places throughout the body through lymph or blood, which is life-threatening.
Maternally hereditary disorder - Leber hereditary optic neuropathy:
Leber hereditary optic neuropathy (LHON) is a maternally inherited optic nerve atrophy caused by mitochondrial DNA mutations. Most of these patients are male, often presenting in the 20s and 30s, but the age of onset can range from childhood to the 70s.
Clinically, it is mainly manifested as simultaneous or successive acute or subacute loss of central visual field in both eyes, and the loss of color vision is mostly before the loss of vision. Patients with LHON may also have abnormalities such as tremor, ataxia, dystonia, spinal cord bundle dysfunction, deafness, and skeletal deformities, as well as a syndrome similar to multiple sclerosis.
The first blinding eye disease of prematurity - retinopathy of prematurity:
Retinopathy of prematurity (ROP) refers to the development of fibrous hemangioma proliferation and contraction of the unvascularized retina in preterm infants under 36 weeks of gestation, low birth weight, and prolonged oxygen intake, which further causes traction retinal detachment and blindness. In patients with shorter or lower birth weights, the incidence can reach 60% to 80%.
Usually, the active phase of retinopathy of prematurity occurs at 4 to 6 weeks after birth, which is also the best period for screening for retinopathy, and screening is recommended during this time period; If retinopathy of prematurity is confirmed, it will need to be checked weekly and done accordingly** as directed.