Congenital Cataract (Pediatric cataract and epidemology in Nepal)

pediatric caaract
Any opacification of the lens and its capsule in children less than 15 years of age is defined as pediatric cataract
Can be :
Isolated or associated with a systemic condition or other ocular anomalies
Congenital or acquired
Unilateral or bilateral
Inherited or sporadic
Partial or complete
Stable or progressive
Epidemology:
An estimated 19 million children are visually impaired and 1.5 millions are blind with 1 million children living in Asia
Prevalance of pediatric cataract range from 1.2 to 6 cases per 10,000 births
In Nepal (as in other developing countires), cataract is a leading cause of blindness in children
Nepal blindness survey from 1978 to 1980, congenital cataract accounted for 16.3% of blindness detected in children under the age of 15 years (Brilliant et al, 1985)
Epidemology of Blindness in Nepal 2012 survey has suggested that the prevalence of childhood blindness has reduced from 0.68% in 1981 to 0.4% in 2011 (Sapkota, 2012)

1. CONGENITAL CATARACT Dr Sambandha Khati 2 nd year resident

2. Introduction Latin word cataracta : “waterfall” Cataract is defined as any opacity of the crystalline lens of the eye, which impedes the image clarity causing reduced visual acuity and impaired contrast sensitivity One of the most important causes of preventable blindness and is responsible for 5-20% of pediatric blindness worldwide May be congenital or acquired, unilateral or bilateral and in the majority of cases is treatable Gilbert C, Foster A. Childhood blindness in the context of VISION 2020—the right to sight.  Bull World Health Organ  2001;  79 (3): 227–232 .

3. Embryology

4. Pediatric cataract Any opacification of the lens and its capsule in children less than 15 years of age is defined as pediatric cataract Can be : Isolated or associated with a systemic condition or other ocular anomalies Congenital or acquired Unilateral or bilateral Inherited or sporadic Partial or complete Stable or progressive

5. Epidemology An estimated 19 million children are visually impaired and 1.5 millions are blind with 1 million children living in Asia Prevalance of pediatric cataract range from 1.2 to 6 cases per 10,000 births In N epal (as in other developing countires ), cataract is a leading cause of blindness in children

6. Nepal blindness survey from 1978 to 1980, congenital cataract accounted for 16.3% of blindness detected in children under the age of 15 years (Brilliant et al, 1985) Epidemology of Blindness in Nepal 2012 survey has suggested that the prevalence of childhood blindness has reduced from 0.68% in 1981 to 0.4% in 2011 ( Sapkota , 2012)

7. Classification Based on :

8. According to AGE OF ONSET Congenital cataract Present since birth Limited to embryonic or fetal nucleus Developmental cataract Present during childhood before age of 15 years Involves deeper part of cortex or capsule

9. According to LATERALITY Unilateral Bilateral 1/3 rd - Idiopathic- may be unilateral or bilateral 1/3 rd – Inherited – usually billateral 1/3 rd – associated with systemic disease – usually billateral

10. Bilateral Cataracts Idiopathic Hereditary Genetic disease Downs syndrome, Marfan syndrome, Alport syndrome, Myotonic dystrophy, fabrys disease Metabolic disease Galactosemia , hypoglycemia, hypoparathyroidism Maternal infection Rubella, CMV, Varicella, Syphillis , Toxoplasmosis Ocular anomalies Aniridia , anterior segment dysgenesis syndrome Toxic Corticosteroids, radiation (may be unilateral)

11. Unilateral Cataract Idiopathic Ocular anomalies Persistent fetal vasculature Anterior segment dysgenesis Posterior lenticonus Posterior pole tumors Traumatic (r/o child abuse) Rubella Masked bilateral cataract

12. According to MORPHOLOGY

13. Anterior Cataract

14. 1. Anterior Polar cataract Opacities that involves anterior subcapsular cortex and capsule of anterior pole of lens Present as a small white dot Are thought to arise from Imperfect separation of lens vesicle from surface ectoderm Metaplasia of anterior epithelial cells Usually congenital, non progressive, small ,bilateral and symmetric

15. Does not impair vision significantly Associated with ocular abnormalities like Microphthalmos Aniridia Persistant pupillary membrane Anterior lenticonus

16. 2. Anterior Pyramidal Cataract More severe form of anterior polar cataract Are conical opacities that project into anterior chamber from anterior lens capsule Tends to be larger, elevated and visually more significant Are usually congenital, bilateral, symmeterical

17. 3. Anterior subcapsular cataract Usually developmental Associated with acquired diseases , trauma, uveitis, irradiation, Alport syndrome or atopic skin disease The opacities vary between very subtle to dense

18. 4. Anterior lenticonus Associated with A lport syndrome, W aardenburg syndrome, L owe syndrome X linked dominant Systemic abnormalities like progressive hereditary nephritis, hearing impairment can occur Anterior lenticonus < posterior lenticonus

19. Central cataract

20. 1. Nuclear cataract These are opacities of embryonic and/or fetal nucleus, between the Y sutures Can be inherited or sporadic Usually billateral presents with a central white opacities approximately 3.5mm in diameter surrounded by clear cortex Density and size can vary

21. Are usually stable but can progress With time, the cortex may become diffusely opacified , or radial opacification (riders) of the cortex may occur

22. 2. Lamellar cataract Zonular cataract Most common type It is opacification of specific layers or zones of the lens material Opacified layer is between adjacent clear lamella Are usually bilateral and may be aymmetric Does not tend to progress with time

23. Additional arcuate opacities spread from equator of lamellar cataract Riders

24. 3. Central Pulverulent cataract Powdery disc-like opacity involving the embryonal and f etal nucleus with many tiny white dots in the lamellar portion of the lens Is usually bilateral, nonprogressive and only rarely affects vision Mutation in gamma crystalline May also occur in transient metabolic changes such as Galactosemia Hypoglycemia Hypocalcemia

25. 4. Sutural Cataract Opacification of Y-sutures of the fetal nucleus May be unilateral or bilateral Are often stationary and are usually not visually significant May be X-linked recessive or autosomal dominant Has radiating spoke-like branches or knobs

26. 5. Cortical cataract are usually seen in children Nucleus is not involved and the opacity is limited to the cortex

27. 6. Cerulean cataract Also known as Blue dot cataract Blue and white opacification scattered in the nucleus and cortex Developmental cataract Usually asymptomatic until 18-24 months of age Slowly progressive

28. Cerulean cataract that are elongated or club-shaped and concentrated in a ring around the equator of the lens are referred to as coronary cataracts

29. Posterior cataract

30. 1. Posterior subcapsular cataract Less common in children than in adults Usually acquired and are often bilateral PSCs tends to progress, visually significant

31. Often have a frosted glass appearance, which occurs immediately anterior to the posterior capsule Causes includes Corticosteriod use Uveitis Retinal abnormalities Radiation exposure And trauma

32. 2. Posterior Polar C ataract Are usually a small, dense, white, central opacity of the posterior lens More profound decrease in vision as compared to anterior polar cataract May be bilateral or unilateral May be familial or sporadic

33. 3. Mittendorf’s Dot Remnant of anterior part of the hyloid artery Is a small, dense and white round plaque attached to the posterior lens capsule Is a clinical variant of Persistent Fetal vasculature Visually insignificant

34. 4. Posterior Lenticonus Is a thinning of the posterior capsule that results in the adjacent lens material buldging posteriorly More common than anterior lenticonus Vision may be significantly affected Most cases are unilateral and sporadic Has been associated with lowe syndrome, Alport syndrome

35. Total cataract General opacity of all lens fibers Lamellar and nuclear cataracts progress to total cataract Suspect posterior lenticonus if minimal opacity progress in short time to total cataract or suspect persistent fetal vasculature Electrolyte imbalance in severe dehydration and diarrhea Rubella and Downs syndrome

36. 1. Congenital morgagnian cataract Special type of cataract Lens fibers liquify but nucleus remains intact Nucleus moves within lens capsule depending on gravity Rarely if present late, fluid gets absorbed leading to fusion of anterior and posterior capsule

37. 2. Membranous cataract Is thin fibrotic lens resulting from absorption of lens materials Anterior and posterior capsule fuses forming dense white membrane

38. Has been associated with trauma, posterior or anterior capsule defects, congenital rubella, Hallermann-Streiff syndrome, persistent fetal vasculature, Lowe’s syndrome and aniridia

39. Miscellaneous Cataracts

40. Coralliform cataracts Needle or coral like projections from nucleus into cortex Bilateral Usually non progressive and may be visually significant

41. Floriform Cataract Uncommon morphological form Autosomal dominant Resemble the petal of a flower

42. Sectoral Cataract Wedge shaped cataract May be specific to Stickler Syndrome and Conradi-Hunermann Syndrome

43. Persistent fetal Vasculature Common cause of unilateral cataract Associated with microphthalmos , elongated ciliary process, shallow AC, retrolental plauqe , cataract, retinal detachment Suspect Norrie’s disease in B/L persistent vasulature

44. Drug induced cataract Miotics – anterior subcapsular granular type cataract in the form of vacuoles appreciated on retroillumination Phenothiazines – fine pigmented (yellow-brown) granular under anterior capsule in axial form Amiodarone – anterior subcapsular stellate shaped axial pigmented opacities

45. Steroid induced Cataract Children are more susceptible than adults Mechanism: Increase glucose levels Inhibition of Na+- k+ ATPase pump Loss of ATP Increased cation permeability Have little effect on vision and do not usually require surgery

46. Radiation Induced Cataracts Radiation used to treat ocular and periocular tumors Dose of 15GY shown to be associated with 50% risk Posterior subcapsular cataracts – 1-2 years after therapy Late effects of radiation on the eye and ocular adnexa K B Gordon   1 ,  D H Char ,  R H Sagerman

47. Late effects of radiation on the eye and ocular adnexa K B Gordon   1 ,  D H Char ,  R H Sagerman

48. Laser Photo coagulation Used to ablate avascular retina of infants with threshold retinopathy of prematurity can cause cataract Occurs after few weeks after laser treatment Visually insignificant o pacities to total opacification of lens can occur Anterior/ Posterior subcapsular cataract, nuclear cataract are common

49. Traumatic Cataract Birth trauma Child Abuse – Battered Baby Syndrome Closed globe or Open globe injury Rosette cataract

50. Metabolic Cataract Wilson’s disease Diabetes 54 Sunflower cataract Snowflake cataract

51. Galactosemia Oil droplet central opacity Fabry’s Disease

52. Myotonic Dystrophy Christmas Tree opacity Cart wheel cataract: mannosidosis Polychromatic iridescent crystals in cortex

53. Hypoglycemia and hypocalcemia Lamellar cataracts develop in hypoglycemic or hypocalcemic condition Hypoglycemia common in Low Birth Weight Babies Hypocalcemia – hypoparathyroidism or pseudohypoparathyroidism Hypocalcemic cataract after total thyroidectomy – case report TETANIC CATARACT

54. Cataract associated with infections Congenital cataract occurs in intra uterine with Rubella Cytomegalovirus Toxoplasmosis HSV Varicella Syphillis

55. Congenital Rubella Syndrome Infection occurs in 1 st trimester of pregnancy Traid of congenital heart disease (8%) , hearing loss (60%) and congenital cataract (43%) It is pearly white nuclear cataract -> forms complete cataract and the cortex may liquify Other ocular manifestation Microphthalmia Cloudy cornea Iris atrophy Congenital glaucoma Pigmentary maculopathy Optic neuritis

56. Complicated Cataract Result of the chronic ocular inflammation or secondary to the chronic use of steroids Juvenile idiopathic arthritis (IJA) Chronic anterior uveitis Fundus dystrophies – retinitis pigmentosa High myopia

57. Inherited with systemic abnormalities Assosciated with number of syndrome – systemic disorders as well as other ocular anomalies Chromosomal abnormalities Trisomy 21 (Down’s syndrome) Trisomy 13 ( Patau’s syndrome) Trisomy 18 (Edward’s syndrome) XO (Turner’s syndrome)

58. Skeletal disease Conradi-Hunermann syndrome Stickler syndrome Bardet-biedl syndrome Weil marchesani syndrome Central nervous system abnormalities Norrie’s disease Cerebro - oculo -facial-skeletal syndrome Myotonic dystrophy Renel disease Lowe’s syndrome Alport syndrome

59. Cataract assosciated with ocular developmental anomalies Persistent hyperplastic primary vitreous (PHPV) Aniridia Posterior lenticonus Peter’s anomaly Retinopathy of prematurity Anterior chamber cleavage syndrome Introcular tumor

60. Approach of pediatric cataract

61. Diagnosis and pre-operative work up by careful history taking, examinations and investigation History Detailed history of ocular complaints Duration of symptoms Previous ocular surgery/treatment Systemic complaints History of drug intake/radiation exposure/trauma Presence of nystagmus , squint

62. Maternal history – antenatal history, history of drug intake/ radiation exposure, fever Birth history Developmental history Similar family history (siblings/parents)

63. Examination General physical and systemic examinations : for metabolic and associated congenital ocular and systemic anomalies Ocular examinations: Assessment of visual function: VA, retinoscopy /refraction, alignment, nystagmus , EOM Fixation behavious Pupillary reaction Anterior segment biomicroscopy Posterior segment evaluation : FEUM, USG B-scan Tonometry, corneal diameter, keratometry Axial length measurement

64. Signs and symptoms Symptoms : Informant – usually parents History of white spot in pupillary area Child is usually brought with history of dimunition of vision/ does not recognize objects and parents Unsteady eyes Deviation of eye Associated symptoms of systemic disease, if present

65. Signs : Dimunished vision (at times it is difficult to establish in very young children) Lenticular opacity Nystagmus Deviation of eye There may be other ocular and systemic abnormalities in cases of rubella nuclear cataract

66. Laboratory Investigations For all non-hereditary, idiopathic, bilateral cases TORCH VDRL Urine for reducing substance Serum glucose, calcium, phosphorus, alkaline phosphatase Thyroid function tests Karyotyping

67. Summary Pediatric cataract is one of the important causes of blindness Represents a diverse spectrum of morphologies, etiologies and clinical presentations Determination of the visual significance of congenital cataracts depends upon measurements of the size, location and density of opacity, duration of visual deprivation and assessment of the red reflex Early detection and intervention is needed to prevent irreversible amblyopia and permanent blindness

68. Reference Clinical Ophthalmology-Myron Yanoff American Academy of ophthalmolog (lens and cataract,Pediatic opthalmology and strabismus) Albert and Jakobiec Clinical Ophthalmology -Jack J. Kanski

69. Management of congenital cataract Next class Dr. PKD

70. Thank you